May 2021

Newsletters

Message from the Executive Director

Dear NNPDF Community,

As a rare disease community, we are stronger together. Recently we have seen the impact that our collective voices and collaboration can make: From working in unison with community partners on a global scale as active members of the International Niemann-Pick disease Alliance (INDPA), through NNPDF’s role on the NPC Accelerator, to ensuring the patient voice is represented in dialogue with regulatory agencies, partnering with the NPC Moms grassroots advocacy mobilizations, or to uniting the ASMD patient voice around the need for a managed access program, we have recently seen progress on several fronts.

Thank you again to the families and clinicians who spoke at our Niemann-Pick Listening Session with the FDA in April. This important meeting highlighted our community’s concerns across the nation and set the stage for ongoing advocacy needs. We know there is so much interest in the regulatory process right now and we are consistently working with our pharma partners to ensure patient voices are heard in their regulatory interactions. With arimoclomol’s PDUFA date in June, it is possible that there could be a first approval for NPC, as well as positive progress in our pipeline from Cyclo Therapeutics, IntraBio, and Sanofi Genzyme. The news of a potential sale of the adrabetadex asset to Mandos LLC settles some of the uncertainty was have faced. We have reached out to the leadership at Mandos, and although they cannot engage in dialogue until the acquisition is complete, we are sure that meaningful and collaborative discussions will follow.

The progress we are experiencing towards an approved treatment for Niemann-Pick disease would not be possible without research. Thanks to our community’s commitment, NNPDF has raised over $5 million towards Niemann-Pick research over the years and supported programs that have led to critical discoveries. We are proud to continue to support Research Fellowships in ASMD and NPC in meaningful ways. Presentations from our current NNPDF Research Fellows will take place on Saturday, July 31st as part of our Family Support & Medical Conference. Registration is now open (and complimentary for families!)

We look forward to seeing everyone, although virtually, at our Family Support & Medical Conference this July 29th – August 1st . Our interactive weekend will bring the latest news and updates and also reunite us in our shared goals. A networking zoom link will be available all weekend for families to connect and talk with one another, our siblings leadership group will continue to grow, and of course, our Activity Zone will be open for children and filled with wonderful programming lead by an amazing team of volunteers.

Until then, as always, we are here for you.

Best Wishes,

Joslyn Crowe, MSW, MA
NNPDF Executive Director

NNPDF Cora Sterling Endurance Award Nominations

Join us for a special virtual conference event with live interactive sessions, important advocacy and FDA updates, our Celebration of Hope video tribute, family break-out sessions, and more. NNPDF Family Advisory Working Groups will take place on Thursday, July 29th, before the start of the conference.

Register by June 15th to receive your FREE conference t-shirt with EARLY BIRD registration (US registrants only).

Connect with NNPDF families, expert clinicians, researchers, and other community partners throughout the conference events. Download the NNPDF app for connecting, updates, info, contests, and more!

Conference Information & registration nnpdfconf.org

Deadline for nominations is May 31st. Do you know a great young person who shines for Niemann-Pick awareness? NNPDF is seeking nominations for the NNPDF Cora Sterling Endurance Award. This award is presented annually at the NNPDF Family Support & Medical Conference to a young person (under age 25) who shines in raising awareness of Niemann‐Pick disease in the community. Click here for nomination information.

Newborn Screening Update

This month, May 2021, for the very first time ever, a newborn was screened for Niemann-Pick Type C. ScreenPlus, a newborn screening pilot study taking place in New York state, enrolled its first neonate this month. The historic study includes NPC among about a dozen other rare disorders on its screening panel. It is the largest multi-disorder, consented, newborn screening pilot program in the US.

What is the significance?

A report from the 2020 census found that there were 3.6 million births in the US last year. That means that as many as 36 families gave birth to a beautiful baby who might also – completely unbeknownst to them – have NPC. That means they will likely experience the same grueling diagnostic odyssey that many families have traveled while trying to unravel various medical mysteries. ScreenPlus is a chance to reverse this at long last. Knowing sooner provides a chance to intervene sooner and help these babies live longer and healthier lives.

Please see Firefly Fund’s release for more information about this important milestone for the NPC Newborn Screening Initiative.

In the Spotlight

Dr. Caroline Hastings, MD

Fellowship Director, Pediatric Hematology Oncology, Children’s Hospital & Research Center Oakland
NNPDF Scientific Advisory Board

What inspired you to begin working in the field of NPD?
In my clinical pediatric hematology and oncology practice, I provide consultations for patients with enlarged livers or spleens, sometimes with abnormal blood counts, who are referred due to concern for cancer or a blood disease. A number of these patients ultimately were diagnosed with an assortment of metabolic diseases. In 2007, I met the Hemple twin girls, Addie and Cassie, referred for assessment of identically enlarged spleens, and through a series of evaluations diagnosed them with Niemann-Pick Type C. I had only heard of this in medical school and realized at this time that no significant advances had yet been made in treating this disease. The family asked me to take a risk with them and put together a team to actively investigate options for treatment (at that time there was very little animal data). This was the beginning of a long story and the patient use and investigation of a novel therapeutic, hydroxy-propyl-beta-cyclodextrin.

How did you come to be involved w NNPDF?
I became involved with the NNPDF as a result of my involvement with patients and families nationally. Indeed, I first connected with the NNPDF in 2007, shortly after diagnosing my first patients, in search of potential ideas and interventions as well as a means to provide support for the families. This is also the optimal forum to share ideas and latest discoveries and I was invited to present our earliest outcomes with cyclodextrins.

What do you enjoy most about your professional role and your volunteer role with NNPDF?
I absolutely love seeing patients and families and helping them understand how the disease is impacting their lives. I always try to find some way to make life better for them and to instill hope for the future. It is also such an honor to be at the meeting and meet with families from all over the country, as well as internationally, and hear their stories. They are inspirational and renew my energy and hope in our work together.

What changes have you seen in awareness of NPD in the medical and scientific communities?
This community of patients and families are very engaged and supportive of one another, and the NNPDF has provided the resources to ensure high quality information as well as physical, emotional and financial support. Very few foundations have been as successful as the NNPDF in creating a format for patients/families and scientists/clinicians to engage with one another and with the opportunity to share experiences and discoveries. Only 15 years ago it was difficult, if not impossible, for patients and families to be truly informed of the nature of the disease as well as potential treatments. NNPDF has changed that and is actively addressing the needs of patients and families, and ultimately instilling hope.

What do you think the future of NPD looks like?
I think the future looks amazing! We have learned so much about NPD in the last decade and many researchers and pharmaceuticals are utilizing this new knowledge to develop creative therapies. It is likely that the next decade will bring many more options for treatment as well as fine tuning current therapies and tailoring them for the individual patient. Patients with NPC may ultimately benefit from multiple interventions to lessen the severity of the disease, improve quality of life, and quite possibly cure the disease. Increased awareness of the disease and newborn screening will be critical as therapies improve, to be utilized earlier in life and prevent the devastating consequences.

Cyclo Therapeutics Welcomes Lori McKenna Gorski, Global Head of Patient Advocacy

My name is Lori McKenna Gorski and I am delighted to have joined Cyclo Therapeutics to oversee Patient Advocacy and Engagement. Most of my career has been focused on working in biotechnology, and particularly in rare diseases. I spent many years at Genzyme (now Sanofi Genzyme) in roles in both communications and patient advocacy, including on the Niemann-Pick B/ASMD program. I got to know your global community before the clinical trial commenced, and through such disease awareness programs like Expression of Hope.

Our team is working tirelessly to soon begin enrollment of our Phase 3 study in NPC, beginning with several sites within the United States. This pivotal study is evaluating Trappsol® Cyclo™, a proprietary formulation of hydroxypropyl beta cyclodextrin, used intravenously, for the treatment of NPC. If you have questions about this study, you can find more information here. As we’ve shared with you before, those who have previously been treated with hydroxypropyl beta cyclodextrin (including through intrathecal administration) are not eligible for this particular study. However, you may access our investigational therapy through individual INDs beginning in August, and your physician may reach out to us for more information. We are looking forward to learning more about NPC through these clinical efforts, and as always, through our engagement with you.

While I have previous experience with the Niemann-Pick Community and with lysosomal storage disorders, I know I have much more to understand about the community today. I am looking to speak with a few patient families across the country who would agree to share their stories with me. I am most interested in learning about the path to diagnosis, how NPC affects your family and about your ambitions and hopes for the future. My goal is to eventually share these stories with the entire Cylco team, and externally to help increase general awareness and understanding of this disease. I know just a few stories cannot entirely capture the unique journeys and experiences within NPC families, and I am eager to continue our learning in other ways in the months ahead. If you would not want your story to be shared broadly, I understand and will keep our conversations confidential.

If you’d be willing to connect, I ask that you send an email directly to me at [email protected]. From there, we can set up a time to speak by phone. After we speak, I will share a draft of your story with you to be sure you are comfortable with what we captured. In a perfect world, I’d love to come and meet with you in person, but those plans must remain on hold for now as we continue vaccinations to prevent the spread of COVID.

Thank you for the opportunity to learn more about NPC, your individual journeys and how Cyclo may best support you in the future. I am grateful to each of you, and to the devoted leaders of the NPC patient organizations for your collaboration and guidance.

Lori McKenna Gorski,
Global Head of Patient Advocacy

Membership Update

We are continuing to request that ALL current and interested community members confirm or update your membership information to ensure we have accurate contact information for you and your family for continued important notifications from the NNPDF. Thank you for your participation.

For enrollment assistance contact Laurie at [email protected] or call 603-413-8707

Clinical Trial Update

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

Update from Sanofi Genzyme:
Sanofi Genzyme has shared an update about the managed access program (MAP) cohort for olipudase alfa in the United States for certain patients with ASMD. Click here for complete announcement.

Community News Updates

Mallinckrodt Pharmaceuticals has reached an agreement to divest and transfer the Investigational New Drug (IND) application for experimental drug adrabetadex (VTS-270) to Mandos, LLC. Click here for complete announcement.

Cyclo Therapeutics is pleased to announce the appointment of Lori McKenna Gorski as Global Head of Patient Advocacy. Click here for complete announcement.

ASMD Accelerate Study

The ASMD Accelerate study continues to enroll both patients with Infantile Neurovisceral ASMD (NPA) and Chronic Neurovisceral ASMD (NPA/B).

Wylder Nation Foundation has partnered with PicnicHealth to launch the ASMD Accelerate study as a way for families to easily contribute to advancing research for ASMD.

There are two “caregiver” scenarios for enrollment:

1) Those who are currently on the medical journey and caring for a child with NPA or NPA/B
For these families, participation will not only help researchers better understand the disease but will also provide them with digital access to all of their medical records in one central location and give them the ability to share records with whomever they feel necessary such as other doctors or specialists.

2) Those whose child has unfortunately passed away from NPA or NPA/B
For these family’s participation is equally important to helping researchers better understand the disease and can serve as a way to carry on their child’s legacy and hopefully improve outcomes for future children diagnosed with the disease.

Enrolling in the study is easy and can be done via the study landing page. Once enrolled all you will need to do is provide a list of the doctors and/or care facilities your child has visited, and Picnic Health will do all the work of obtaining the medical records, structuring them, and uploading them to the family’s personal timeline. Click here for additional information and enrollment.

To review the recent ASMD Accelerate Study Webinar click here.

Comprehensive Care Centers

NNPDF has created a listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!

If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at [email protected].

Emergency Hardship Program

The NNPDF Emergency Hardship Program offers help to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. This assistance program provides relief to members facing a situation that threatens their immediate health and safety, or that causes a terrible hardship. It is intended to provide short term financial assistance in a crisis situation and is not intended to address long term financial challenges.

If you have questions about this program, please contact Laurie Turner, Family Services Manager at 603-413-8707 or [email protected]. Applications will be reviewed by the NNPDF Emergency Hardship Program Committee consisting of 2 Board members and 3 members-at-large.

To be eligible for funding, NPD individuals and families must reside in the US and must be enrolled as a member of the NNPDF for a minimum of 6 months prior to requests*. Funding is available for up to $1000 per calendar year per eligible member. Families with multiple children with NPD are eligible to apply for each affected individual. The NNPDF Board of Directors and Emergency Hardship Program Committee members work to keep the fund fiscally sound, by being the last resort to be used, limiting regular, recurring use by any one recipient, and encouraging donations.

Download and complete fillable PDF application, and return via email to Laurie Turner at [email protected].

*Those with new diagnoses are eligible to apply if diagnosis was within 6 months of request.

Patient AirLift Services

Patient AirLift Services is a nonprofit that arranges free flights for medical patients requiring medical diagnosis, treatment or follow-up who cannot afford or are unable to fly commercially.

PALS also arranges volunteer flights for family members of patients as compassionate missions, to ensure patients have support when they are away from home for long periods. PALS is proud to assist military personnel and their families with free flights to aid in the recovery and rehabilitation processes for our wounded veterans. Click here for more information.

Fundraising & Awareness Opportunities

Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick disease. Click here to view current and past fundraising and awareness events.

Have you recently hosted an NNPDF fundraiser?

Send us your photos and we’ll share them and details from your event in upcoming newsletters!

Supporting one another. Supporting our community.

April 2021

Newsletters

Message from the Vice Chair

Dear NNPDF Community,

On behalf of the NNPDF we would like to first and foremost thank those that participated and supported our FDA Listening Session on April 9. The impact of statements from clinicians, patients, caregivers as well as the patient advocates provided incredible insight into the complexities of this disease and its impact on clinical research and patient symptom and disease management. During this session, we were able to outline areas that we, as a community, need the help of the FDA.

If you have not already seen the FDA Listening Session Summary Report, I encourage you to visit our website and read through it. It is also available in this newsletter.

As the national patient advocacy and family support organization dedicated to supporting and empowering patients and families affected by Niemann-Pick disease, the NNPDF is continuing to strategize with community members, advocates and researchers. We are finding incredible value in hearing your voices and bringing forth the importance of a united community. It is our job and our duty to remain unbiased in our work toward educating, collaborating and supporting research, so that our community can find promise in multiple therapies.

This is a very important time for our community. Patients and caregivers have all been faced with a lot over the past few months and prior. It is in these moments that we continue to work together and forward for the better of the community. We ask that we stand together, working toward a common purpose. We will PERSEVERE and continue to drive for the positive progress we can make for the lives of those affected with Niemann-Pick disease. As our community works together we will remain transparent in our strategy and continue to convey the needs of this incredible community

Thank you,

Becky McGuire, Cousin to Kelly – NPC
NNPDF Vice-Chair

FDA Listening Session on Niemann-Pick disease Summary Report

NNPDF hosted an FDA listening session on Niemann- Pick Disease on Friday, April 9th. The listening session was a platform for the NNPDF to present to the FDA/CDER and to share the concerns and priorities from the entire Niemann-Pick disease community. To review the NNPDF FDA Listening Session Summary Report, please click here.

The Listening Session Summary Report was submitted to the FDA along with several patient voice statements and the arimoclomol support letter which was signed by 500+ Niemann-Pick community members! Thank you for supporting your Niemann-Pick community!

NNPDF-INPDA Family Support & Medical Virtual Conference

We continue to prepare for the NNPDF-INPDA Family Support & Medical Virtual Conference taking place July 29 – August 1st! Watch for registration details coming soon! In the meantime, remember to download the NNPDF app for connecting, updates, info, contests, and more!

NNPDF Cora Sterling Endurance Award Nominations

Do you know a great young person who shines for Niemann-Pick awareness? NNPDF is seeking nominations for the NNPDF Cora Sterling Endurance Award. This award is presented annually at the NNPDF Family Support & Medical Conference to a young person (under age 25) who shines in raising awareness of Niemann‐Pick disease in the community. Deadline for nominations is May 31, 2021.

Click here for nomination information.

Order Your NNPDF Gear TODAY!

It’s time to order some awesome NNPDF gear! For a limited time our NNPDF Pop-Up Online Store will be accepting orders for your NNPDF Tote Bags, Towels, Gaiters, T-Shirts, Jackets, Hats and more! Get some great additions for your summer outings! (US Only) Open through May 16th.

ASMD Accelerate Study

Wylder Nation Foundation has recently partnered with PicnicHealth to launch the ASMD Accelerate study as a way for families to easily contribute to advancing research for ASMD.

The study is currently enrolling both patients with Infantile Neurovisceral ASMD (NPA) and Chronic Neurovisceral ASMD (NPA/B).

There are two “caregiver” scenarios for enrollment:

1) Those who are currently on the medical journey and caring for a child with NPA or NPA/B
For these families, participation will not only help researchers better understand the disease but will also provide them with digital access to all of their medical records in one central location and give them the ability to share records with whomever they feel necessary such as other doctors or specialists.

2) Those whose child has unfortunately passed away from NPA or NPA/B
For these family’s participation is equally important to helping researchers better understand the disease and can serve as a way to carry on their child’s legacy and hopefully improve outcomes for future children diagnosed with the disease.

Enrolling in the study is easy and can be done via the study landing page. Once enrolled all you will need to do is provide a list of the doctors and/or care facilities your child has visited, and Picnic Health will do all the work of obtaining the medical records, structuring them, and uploading them to the family’s personal timeline. Click here for additional information and enrollment.

To review the recent ASMD Accelerate Study Webinar click here.

Membership Update

Thank you to all that have recently updated their membership. We are continuing to request that ALL current and interested community members confirm or update your membership information to ensure we have accurate contact information for you and your family for continued important notifications from the NNPDF.

For enrollment assistance contact Laurie at [email protected] or call 603-413-8707

Newborn Screening Update

The Newborn Screening Working Group will hold its first virtual meeting in 2021 on Friday May 14th at 4pm ET. If you are interested in learning more about the efforts of the Newborn Screening working group and the progress that is being made towards realizing the goal of having NPC added to the RUSP (Recommended Uniform Screening Panel), or if you would like to join this important advocacy and research project, please contact Pam Andrews at Firefly Fund ([email protected]) to be added to the distribution list for future communications.

Comprehensive Care Centers

NNPDF has created a listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!

If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at [email protected].

Coffee & Catching Up

Stay connected with your Niemann-Pick community with NNPDF virtual Coffee and Catching Up! Click here for May registration information. Questions? Please contact Laurie Turner, Family Services Manager at [email protected] or 603-413-8707.

Extraordinary

A Book for Children With Rare Disease

NNPDF is excited to share to that Extraordinary! A Book for Children with Rare Diseases, written by Evren Ayik and his Mom, Kara, is now available for purchase online. This book, written as an expression of support for children who live with the challenge of growing up with a rare disease, captures the lessons Evren learned beginning at age three when he was diagnosed with ASMD. Click here to learn more. Congratulations to Evren and Kara! Well done!

Emergency Hardship Program

The NNPDF Emergency Hardship Program offers help to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. This assistance program provides relief to members facing a situation that threatens their immediate health and safety, or that causes a terrible hardship. It is intended to provide short term financial assistance in a crisis situation and is not intended to address long term financial challenges.

If you have questions about this program, please contact Laurie Turner, Family Services Manager at 603-413-8707 or [email protected]. Applications will be reviewed by the NNPDF Emergency Hardship Program Committee consisting of 2 Board members and 3 members-at-large.

To be eligible for funding, NPD individuals and families must reside in the US and must be enrolled as a member of the NNPDF for a minimum of 6 months prior to requests*. Funding is available for up to $1000 per calendar year per eligible member. Families with multiple children with NPD are eligible to apply for each affected individual. The NNPDF Board of Directors and Emergency Hardship Program Committee members work to keep the fund fiscally sound, by being the last resort to be used, limiting regular, recurring use by any one recipient, and encouraging donations.

Patient AirLift Services

Patient AirLift Services is a nonprofit that arranges free flights for medical patients requiring medical diagnosis, treatment or follow-up who cannot afford or are unable to fly commercially.

PALS also arranges volunteer flights for family members of patients as compassionate missions, to ensure patients have support when they are away from home for long periods. PALS is proud to assist military personnel and their families with free flights to aid in the recovery and rehabilitation processes for our wounded veterans. Click here for more information.

Clinical Trial Updates

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

Updates from Cyclo Therapeutics: Cyclo Therapeutics announces their design of pivotal Phase 3 study evaluating Trappsol® Cyclo™ in Niemann-Pick Type C1 patient enrollment is on track to commence in Q2 2021. For complete announcement click here.

Cyclo Therapeutics announces their Phase III pivotal trial using Trappsol® Cyclo™ will be enrolling soon. For complete announcement click here.

Update from Sanofi Genzyme: Sanofi Genzyme has shared an update on compassionate use program for olipudase alfa. For complete announcement click here.

Illustrate Your Imagination

HEY SUPERHEROES!

In recognition of Global Niemann-Pick disease Awareness Month, the Orphazyme team invites you to join us on a quest to “Illustrate Your Imagination.”

Our team often hears brave stories of your experiences living with Niemann-Pick disease and times when you took on challenges with deep personal courage, perseverance, care, and integrity. We’d like to help your super stories take flight.

Your mission, should you choose to accept it: Visit IllustrateYourImagination.com and download a kit to create your own comic. The kit is filled with page templates, instructions, and some flair to help bring your story to life. Submit your story to our online comic book gallery and check out submissions from other superheroes around the world.

We can’t wait to see the creative stories you come up with!

Regan Sherman
Head of Global Patient
Advocacy Relations
Orphazyme

Supporting one another. Supporting our community.

March 2021

Newsletters

Message from the Board Chair

NNPDF Community,

I appreciate the opportunity to bring you the Spring edition of the NNPDF Board Chair update. As the world looks to rebound from the bitter year that was 2020, the optimism generated by the increasing availability of successful vaccines brings hope of better days ahead. While we are regularly reminded that we aren’t out of the woods yet, it’s encouraging to have hope. Thank you for doing your part in working toward a better tomorrow.

The Niemann-Pick community has been putting in the work for a better tomorrow for over 30 years, and that work has brought us to a time when we have many potential therapies being studied. In our search for successful treatments for Niemann-Pick disease, there is a lot of news to share.

We are fortunate to have two industry partners that are close to submitting their completed applications to the FDA for approval. Orphazyme has announced a targeted action/PDUFA date of June 17 for the FDA to consider arimoclomol for approval. Sanofi Genzyme will submit their application for olipudase alpha with the FDA later this year. We are hoping to soon become part of the 5% of rare diseases with an FDA-approved treatment.
The pipeline for therapies in NPC shows great promise beyond arimoclomol. Intrabio and Cyclo Therapeutics have both announced positive results with their most recent clinical trials. Cyclo Therapeutics announced that they will begin enrolling for their pivotal trial soon while IntraBio is meeting with regulatory bodies around the globe to direct the next steps of their program in NP-C.
Mallinckrodt’s announcement of the suspension of their clinical program has upended the lives of many in our community. The stories of clinical stability or improvement on this therapy that many of you have shared have reinforced our efforts to find a path forward for this therapy. We are partnering with leaders in our community in our ongoing efforts to advocate for patient access to this compound while exploring options for a path forward.

In our role as the national patient advocacy organization, the NNPDF is uniquely positioned to impact drug development through amplifying your voice in discussions with regulators, industry partners and payors. Joslyn’s background in market access is particularly important as we prepare for the approval of therapies and look to provide access to approved therapies for all Niemann-Pick patients. The health insurance literacy and access survey that our community completed has already proven to be an important tool for us in preparing our community for FDA-approved therapies.

Reflecting back on our community’s experience with clinical trials, we have come to know the difficulties of conducting traditional randomized clinical trials in an ultra-rare disease. Wide spectrums of disease with variable progression, limited numbers of patients, and extended use of placebo all hinder our ability to conduct successful traditional placebo-controlled trials with Niemann-Pick patients.

Right now, it is critical that regulators understand the needs of our community. As such, NNPDF has scheduled a Listening Session with the Center for Drug Evaluation and Research (CDER), a branch of the FDA. During this session, we will call attention to the unmet need in both the ASMD and NPC spaces. Even with the hopeful approval of olipudase, there will be unmet need for the neurologic sequala of ASMD. We will also highlight the ongoing difficulties with designing and conducting traditional clinical trials in our patient community and urge the FDA to allow for unique clinical trial designs that assess endpoints that matter to Niemann-Pick patients and families. We will advocate for a collaborative approach to these issues because we need the patient voice to not only be heard, but to be part of the regulatory process. We will provide follow up to that meeting in the next newsletter.

In our last board meeting, we discussed the importance of remaining connected as a community. For thirty years, the NNPDF has been the vehicle that allowed families to connect with one another and support each other. While last year’s virtual conference allowed a record number of attendees to connect with each other, the void of in-person connections has left many of us feeling less connected with our Niemann-Pick community. We are so fortunate to have Laurie Turner leading our Family Services and hosting the many virtual connection opportunities. The foundation will continue to expand our virtual reach through many different platforms including the launch of a new website this summer. We urge all of you to stay connected with each other and support each other because we need each other now more than ever. We are all looking forward to the day where we can see you all in person. Until then, be well and enjoy your Spring.

Thank you all for your efforts in supporting each other, our community and the NNPDF. Please reach out to me or any of your board members with any questions, concerns or ideas.

Best wishes,

Justin Hopkin, MD
NNPDF Board Chair
[email protected]

Supporting One Another. Supporting Our Community.

Comprehensive Care Centers

NNPDF has created a listing of medical institutions that have experience in caring for and treating Niemann-Pick disorders. This project is supported by our Scientific Advisory Board and we are proud to offer this valuable resource to our families as they search for medical care and treatment. This information has been provided to us by the institutions. Click here to learn more!

If you are connected with a medical team that would like to be added to the NNPDF Comprehensive Care Centers listing, please contact Laurie Turner at [email protected].

ASMD Accelerate Study

Wylder Nation Foundation has recently partnered with PicnicHealth to launch the ASMD Accelerate study as a way for families to easily contribute to advancing research for ASMD.

The study is currently enrolling both patients with Infantile Neurovisceral ASMD (NPA) and Chronic Neurovisceral ASMD (NPA/B).

There are two “caregiver” scenarios for enrollment:

1) Those who are currently on the medical journey and caring for a child with NPA or NPA/B
For these families, participation will not only help researchers better understand the disease but will also provide them with digital access to all of their medical records in one central location and give them the ability to share records with whomever they feel necessary such as other doctors or specialists.

2) Those whose child has unfortunately passed away from NPA or NPA/B
For these family’s participation is equally important to helping researchers better understand the disease and can serve as a way to carry on their child’s legacy and hopefully improve outcomes for future children diagnosed with the disease.

Enrolling in the study is easy and can be done via the study landing page. Once enrolled all you will need to do is provide a list of the doctors and/or care facilities your child has visited, and Picnic Health will do all the work of obtaining the medical records, structuring them, and uploading them to the family’s personal timeline.

Click here for additional information and enrollment.

5th Annual Sanofi Genzyme TORCH Awards

Sanofi Genzyme US Public Affairs & Patient Advocacy is excited to announce the opening of the nomination period for the 5th Annual Sanofi Genzyme TORCH Awards! The TORCH Awards are an opportunity to recognize individuals of all ages who have made a significant contribution to the rare disease community! The nomination period will be open to April 16th, 2021.

You can find the application and guidelines on the Sanofi Genzyme webpage and attached.

The nomination process is simple. Nominees of all ages are welcome, including children. Self-nominations are encouraged! Of note, all nominators must be age 13 and over. Sanofi Genzyme employees, former employees and relatives of Sanofi Genzyme employees are ineligible to receive the award.

To nominate, you will be asked to submit your answer to the following question: “Please explain how the nominee has made a significant contribution to the rare disease community in one or more of the following ways: educating, empowering, advancing or connecting patients with information, resources or each other. What has been the impact of their contribution?”

People of all ages can be nominated! Examples include a young student teaching a class about a rare disease, a local fundraiser, or a parent working to make changes in legislation. Click here to read more about past recipients online.

Recipients for the TORCH Awards program are selected by an independent organization called Scholarship America. Sanofi Genzyme will not receive information on nominees and is not involved in the selection of winners. At the close of the application period, Scholarship America will review the nominations and award up to six nominees based on eligibility requirements. Sanofi Genzyme will contribute $5,000 to the nonprofit organization of each recipient’s choosing, subject to certain conditions.

To submit your nominations, and find out more about the program, please click here. And, we hope you’ll save the date! TORCH 2021 recipients will be recognized in an awards ceremony on August 26, 2021!

If you have any questions, please reach out to Ross Martin at [email protected]. For more information about the program see the attached flyer, which can be shared.

We look forward to recognizing the impact these contributions have made within the rare community and thank you for your nominations!

Thanks,
The Sanofi Genzyme TORCH Committee
MAT-US-2102094 v1.0 03/2021

Membership Update

CONGRATULATIONS to the winners of our early member registration drawing, Joe & Rachel Walts of Madison, Wisconsin! We are continuing to request that ALL current and interested community members confirm or update your membership information to ensure we have accurate contact information for you and your family. Thank you to those that have already done so!

For enrollment assistance contact Laurie at [email protected] or call 603-413-8707

NNPDF-INPDA Family Support & Medical Virtual Conference

Plans are well under way for the NNPDF-INPDA Family Support & Medical Virtual Conference taking place July 29 – August 1st! Mark your calendars and watch for registration details coming soon! In the meantime, remember to download the NNPDF app for connecting, updates, info, contests, and more!

Save the Date for 2022: We still gather in Orlando, along with our INPDA friends and families in late July 2022.

Newborn Screening Update

We are getting closer to the day when the first baby will be enrolled into the ScreenPlus newborn screening pilot program in New York. The entire Niemann-Pick disease community eagerly awaits what we will learn about the possibilities of better outcomes for NPC and ASMD when we can diagnose at birth. This novel pilot study is being led by Dr. Melissa Wasserstein of Montefiore Hospital and will begin in April, 2021.

Earlier this year, the Austin American-Statesman published a feature article about Firefly Fund’s work in newborn screening and highlighted the importance of Dr. Wasserstein’s study for our community.

Community Connections

The void of in-person connections has left many of us feeling less connected with our Niemann-Pick community. We urge you all to stay connected and support each other with NNPDF virtual connection opportunities including ASMD Community Connections, NPC Community Connections, and Coffee & Catching Up sessions. Click here for registration information.

Questions? Please contact Laurie Turner, Family Services Manager at [email protected] or 603-413-8707.

In the Spotlight

The Moore Family

Brynne & Kendall, NPC

Tell us a bit about yourself, such as where do you live and what do you enjoy doing.
Our family lives in the mountains of Southern California, in a little town called, Wrightwood. We are blessed to have the full support of our loving community! We really enjoy camping whether it be at the river, lake, mountains, beach, dunes, etc. The kids love taking road trips, being able to play sports, but ultimately the favorite thing to do is spend time with each other. Gary and I (Julie) have four children: two sons – Devun 14 years and Wyatt 8 years, and two daughters – Brynne 12 years and Kendall 8 years.

When did you receive the girls’ diagnosis? What led to diagnosis?
Our girls were diagnosed in April 2017. Brynne had mild signs of delay in preschool and a couple months before diagnosis she was losing abilities every week. It was an extremely scary time for us. While at an appointment for Brynne, the neurologist told us he believed not only, Brynne, but also Kendall likely had NPC. Within a few weeks we were devastated to learn their diagnosis.

What were the first steps you took after diagnosis?
Through this difficult time we found hope in being put in contact with Sara McGlocklin who connected us with Dr Kravis. Off to Chicago we went to begin the treatments of VTS-270. Within a month Loma Linda University had their site up and running for us to continue treatment there.

How did you learn about NNPDF?
We found NNPDF through Facebook, but it took our family a while to process our new reality, and unfortunately, we didn’t reach out for a while. We basically just loved on our little family and tried to cherish every single moment together.

What caused you to get involved with NNPDF initially and how has being an NNPDF member benefited your family?
I really appreciated all the updates from the NNPDF emails after signing up for membership. Which overtime got me a bit more involved. One of my favorite aspects of the NNPDF is that they always have extended arms for ALL. I appreciate that they let people come to them when they are ready, in their own time and are not pushy.

What Impact has Niemann-Pick had on your life?
NPC has changed our life in many ways. We do not take any precious moments for granted. We put God and our family before everything else. We have learned what an important role the medical team plays in our lives. And have found how loving and accepting the Niemann-Pick community truly is. Our journey is HARD, but it is shaping us into the humans God has created us to become.

What are your hopes for the future for yourself and for the Niemann-Pick community?
My hopes for the future are that multiple treatments will be available to the Niemann-Pick Community and that a cure will be found. That the people living with this disease will have the opportunity to have a better quality of life. That the families will be able to enjoy life more fully with their loved ones, including those affected by this rare disease.

INPDR Update

Thank you to everyone who contacted us with feedback for the INPDR patient, families and friends’ newsletter. There’s still time to share your opinions so please get in touch through email at [email protected], visit inpdr.org/contact-us or social media channels with questions, thoughts and ideas – whichever way you feel comfortable sharing your thoughts, we’d love to hear them. You can also sign up to receive our quarterly newsletter by clicking here. The first newsletter will be sent out towards the end of the month.

The INPDR has also been making good progress working with sites in the U.S. to make sure it is possible for patient data to be shared through your physician. This means that, providing appropriate consent has been given, vital patient data can be shared with the Registry and used for research.

We have also noticed that more patients in the U.S. are signing up to the Patient Reported Database, which is a great way to share your experience of Niemann-Pick disease and directly contribute to progress.

The combination of Clinician Reported Data and Patient Reported Data means the INPDR can provide a broad picture of the patient experience, as well as quality data over time. All of which will make a difference to the Niemann-Pick community as data in the INPDR can be used to improve diagnosis, treatment and care.

Learn more about INPDR here.

Pfrieger’s Digest

“Pfrieger’s Digest” is written by Frank Pfrieger of Niemann-Pick Selbsthiifegruppe (Germany) to provide an overview of the latest advances in Niemann-Pick disease based on recent scientific publications.

Welcome to the fourth issue of Pfrieger’s Digest. You will notice incremental changes in the design: a portrait of Ludwig Pick ornaments the header. However, the image of Albert Niemann is missing, I could not find any. Therefore, my call for a worldwide campaign: Maybe somebody can find a photo, or draw or paint a fantasy portrait… READ MORE

Patient AirLift Services

Patient AirLift Services is a nonprofit that arranges free flights for medical patients requiring medical diagnosis, treatment or follow-up who cannot afford or are unable to fly commercially.

PALS also arranges volunteer flights for family members of patients as compassionate missions, to ensure patients have support when they are away from home for long periods. PALS is proud to assist military personnel and their families with free flights to aid in the recovery and rehabilitation processes for our wounded veterans. Click here for more information.

Emergency Hardship Program

The NNPDF Emergency Hardship Program offers help to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. This assistance program provides relief to members facing a situation that threatens their immediate health and safety, or that causes a terrible hardship. It is intended to provide short term financial assistance in a crisis situation and is not intended to address long term financial challenges.

If you have questions about this program, please contact Laurie Turner, Family Services Manager at 603-413-8707 or [email protected]. Applications will be reviewed by the NNPDF Emergency Hardship Program Committee consisting of 2 Board members and 3 members-at-large.

To be eligible for funding, NPD individuals and families must reside in the US and must be enrolled as a member of the NNPDF for a minimum of 6 months prior to requests*. Funding is available for up to $1000 per calendar year per eligible member. Families with multiple children with NPD are eligible to apply for each affected individual. The NNPDF Board of Directors and Emergency Hardship Program Committee members work to keep the fund fiscally sound, by being the last resort to be used, limiting regular, recurring use by any one recipient, and encouraging donations.

Clinical Trial Update

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

Updates from Cyclo Therapeutics: Cyclo Therapeutics, Inc. announces intravenous Trappsol® Cyclo™ has met the primary efficacy endpoint in a Phase 1/2 trial in Niemann-Pick Type C1. For complete announcement click here.

Cyclo Therapeutics receives positive opinion from the Paediatric Committee of the European Medicines Agency on the agreement of a paediatric investigation plan for Trappsol® Cyclo™. For complete announcement click here.

Cyclo Therapeutics, Inc. announces it’s last patient last visit in their Phase 1/2 Trial Evaluating Trappsol® Cyclo™ for the treatment of Niemann-Pick disease Type C. For complete announcement click here.

Community News Update

Updates from Cyclo Therapeutics: Cyclo Therapeutics to Participate in Inaugural Emerging Growth Virtual Conference. Click here for complete announcement.

Cyclo Therapeutics Appoints Russ Belden as Acting Chief Commercial Officer. Click here for complete announcement.

Cyclo Therapeutics Appoints Gerald F. Cox, MD, PhD as Acting Chief Medical Officer. Click here for complete announcement.

Illustrate Your Imagination

HEY SUPERHEROES!

In recognition of Global Niemann-Pick disease Awareness Month, the Orphazyme team invites you to join us on a quest to “Illustrate Your Imagination.”

Our team often hears brave stories of your experiences living with Niemann-Pick disease and times when you took on challenges with deep personal courage, perseverance, care, and integrity. We’d like to help your super stories take flight.

Your mission, should you choose to accept it: Visit IllustrateYourImagination.com and download a kit to create your own comic. The kit is filled with page templates, instructions, and some flair to help bring your story to life. Submit your story to our online comic book gallery and check out submissions from other superheroes around the world.

We can’t wait to see the creative stories you come up with!

Regan Sherman
Head of Global Patient
Advocacy Relations
Orphazyme

Supporting one another. Supporting our community.

February 2021

Newsletters

Message from the Executive Director

Dear NNPDF Friends and Family,

Rare Disease Day is approaching. On February 28th, families from around the world join together as one voice. Throughout the month, Niemann-Pick families across the US sent photos in support of our “I Care About Rare” program and helped us amplify the Niemann-Pick voice.

Niemann-Pick is one of nearly 7,000 rare diseases. The path to diagnosis for a rare disease can be long, winding, and complicated with few specialists and supports. At the same time, the path to approval of new medications for rare diseases is complicated. We have less patients for clinical trials than a “typical” disease and traditional clinical trial designs may not fit the unique patient populations of rare diseases like Niemann-Pick.

NNPDF is advocating on behalf NPD families, to treat rare diseases differently from mainstream diseases with larger population. We are sharing our thoughts and concerns with the FDA in order to discuss challenges of clinical trials with small patient populations, to find solutions that may make approved treatments possible in the near future, and to increase the patient voice in decision making.

To help support our positions, we now have a vast array of data from our “Challenges of Access” Survey conducted in 2020. Preliminary findings were presented in a poster at WORLD Symposium and will also be shared in a summary report shortly. Thank you again to all of the families who participated in this survey. Your responses are helping us to better understand the health insurance needs and challenges families face in accessing care and services. The data we gathered will provide the foundation needed to discuss these challenges with key opinion leaders, like legislators and regulatory officials, and to provide a platform for our fight to ensure coverage for treatment options.

Last summer our Family Support & Medical Conference featured a keynote address by Dr. Kathleen, Acting Director, Division of Rare Diseases and Medical Genetics (DRDMG), Office of New Drugs, US Food & Drug Administration. This summer, our 2021 Family Conference will again take place as a virtual event. Our Scientific Advisory Board recommend a best way to safely gather our Niemann-Pick families for our annual conference is to hold a virtual conference this year. Our Board of Directors and staff take this recommendation, and the health of the Niemann-Pick community, seriously and support this guidance.

Our program will still be held July 29th – August 1st – starting with Family Advisory Working Groups on the morning of July 29th, and our conference beginning on the evening of July 29th. We are fortunate to host the INPDA Global conference in conjunction with ours and are excited to be joined by our international friends and families. Given the success of last year’s virtual conference, we know this year will be another interactive and engaging weekend filled with clinical & research updates and discussions, our unique family break-out sessions, and plenty of time to connect on our virtual conference platform throughout the weekend.

Registration will be available shortly. Watch for the announcement and link soon! In the meantime, don’t forget to download the NNPDF app for connecting, updates, info, contests, and more!

Warm Wishes,

Joslyn Crowe, MSW, MA
NNPDF Executive Director

Rare Disease Day

Rare Disease Day is February 28th! Show your support on Rare Disease Day by raising awareness of what it means to be rare. Building awareness of rare diseases is so important because 1 in 20 people will live with a rare disease at some point in their life. Despite this, there is no cure for the majority of rare diseases and many go undiagnosed. Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases.

Anyone can get involved in Rare Disease Day awareness. Participants can find helpful resources, activities and events to get involved at rarediseaseday.org. This global event was founded by EURORDIS and is sponsored by the National Organization for Rare Diseases (NORD).

NNPDF Rare Disease Day Participation

Rare Disease Day Facebook Profile

To raise awareness for Niemann-Pick disease and Rare Disease Day the NNPDF has created a custom frame for your Facebook profile pictures. Also, please feel free to display and share the NNPDF Rare Disease Day Facebook banner to promote awareness.

To add the NNPDF Rare Disease Day frame to your Facebook profile picture:

Go to your Facebook page and click on your profile picture.
Click on “Add Frame”.
Search for “NNPDF Rare Disease Day 2021” frame and click your selection.

I Care About Rare

Show us why YOU Care about Rare! During the month of February, join us in promoting awareness of Rare Disease and Niemann-Pick disease.

Click here to print out the I Care about Rare sheet. Add WHY you Care About Rare, snap a photo, and share your on your social networks with the hashtag #NiemannPickRare – let’s flood our social pages with photos of why you Care about Rare and Niemann-Pick disease!
Send your photos to [email protected] with RDD in the subject line to be included in our Rare Disease Day slideshow with your I Care About Rare photos!

Membership Update

Dear Friends,

As NNPDF Board Chair, I am honored to write you on behalf of the National Niemann-Pick disease Foundation. I hope this finds you well during these most unusual times.

We are on the cusp of a tremendously exciting period and hope to see the first approved therapies to treat Niemann-Pick disease. In an effort to best serve you and keep you updated, NNPDF has recently upgraded our data management system to meet the growing needs of our organization. We ask ALL current and interested community members to confirm or update your membership information in this new system by March 15, 2021 to ensure we have accurate contact information for you and your family.

Membership is complimentary for Niemann-Pick families, friends, and community supporters. Your NNPDF membership enrollment will ensure continued notifications of upcoming opportunities to connect with families, participate in advocacy efforts, learn about research breakthroughs and fellowship funding, participate in a clinical trial, and honor a loved one.

Enrollment also includes NNPDF member-only benefits such as:

Emergency Hardship Program
Holiday Gift-Giving
Family Conference Scholarships
Navigating Together family support sessions

Confirm or update your membership information by March 15, 2021
for your chance to win $50 towards NNPDF Gear!

For enrollment assistance contact Laurie at
[email protected] or call 603-413-8707

As a member, we’ll keep you updated along the way as information becomes available for clinical trials, treatments, and advocacy efforts by way of email and our enhanced social media presence.

NNPDF Staff and Board of Directors are available and eager to talk with you and help you in any way we can. We are here for you and want to hear what is important to you! Please reach out to Laurie Turner, Family Services Manager at [email protected] or 877-287-3672 for any questions or for assistance in updating your information.

Thank you for your support and I look forward to our continued journey together.

Justin Hopkin, MD
NNPF Board Chair

NNPDF Family Support Medical Conference Update

Dear Friends and Families,

NNPDF’s Scientific Advisory Board recommend a best way to safely gather our Niemann-Pick families for our annual conference is to hold a virtual conference this year. Our Board of Directors and staff take this recommendation, and the health of the Niemann-Pick community, seriously. We have decided that our Family Support and Medical Conference taking place this summer will be a virtual event.

Our program will still be held July 29th – August 1st – starting with Family Advisory Working Groups on the morning of July 29th, and our conference beginning on the evening of July 29th. We are fortunate to host the INPDA Global conference in conjunction with ours and are excited to be joined by our international friends and families. Given the success of last year’s virtual conference, we know this year will be another interactive and engaging weekend filled with clinical & research updates and discussions, our unique family break-out sessions, and plenty of time to connect on our virtual conference platform throughout the weekend.

Registration will be available shortly. Watch for the announcement and link soon! In the meantime, don’t forget to download the NNPDF app for connecting, updates, info, contests, and more!

Save the Date for 2022: We still gather in Orlando, along with our INPDA friends and families in late July 2022.

NNPDF In Action

WORLDSymposium 2021

Data from NNPDF’s Challenges of Access survey was presented at this month’s WORLD Symposium as a poster (pictured below). The survey aimed to understand health insurance literacy and challenges accessing health services in Niemann-Pick disease through the eyes of patients and families and was the most comprehensive survey conducted of the Niemann-Pick community to date. Significant findings showed that Niemann-Pick disease families had a higher level of heath literacy than the general population however insurance literacy gaps included insufficient knowledge of health insurance terminology and difficulty calculating expenses based on insurance coverage. The results showed that NNPDF has a role to play in better helping families understand Medicaid waivers, plan deductibles and out-of-pocket maximums.

The survey also showed the most common life impacts from access challenges in the Niemann-Pick community were mental health and physical symptoms. Caregiver’s most frequent burden were caregiver burnout and concerns about advocating in the right way. Results shows that Niemann-Pick community members most feared delays in access or being unable to access medications, services, and providers.

The full results of the survey will be published in a final report which will be shared publicly. The results of this research will be used to shape NNPDF’s advocacy efforts to improve patient outcomes.

Navigating Together: Support for all phases of Niemann-Pick disease

NNPDF Family Services is pleased to share that the first Navigating Together small group session has begun. Navigating Together: Legacy Families started this week to offer support to our members that have lost a loved one. NNPDF recognizes our bereaved families are an integral part of our community and we hope to offer support with our Navigating Together sessions.

Navigating Together series is a new direct services program to provide a confidential space for families to process the complexities related to the realities of loss on multiple levels and is led by a licensed professional trained in grief counseling.

Additional Navigating Together sessions will be held for ASMD and NPC Families and may include specific sessions for families during all phases of the NP journey such as – late Onset NPC, Legacy Families, Newly Diagnosed Families.

If you have any questions or would like more information about Navigating Together, please contact Laurie Turner, Family Services Manager at [email protected] or 603-413-8707.

Thank You to all that generously supported the NNPDF with your financial gifts in 2020 through your donations, family fundraisers, and social media fundraisers. It is through the generosity of donors like you that we are able to provide vital unmet services to patients and families along their Niemann-Pick journey. Your support matters. We can’t do it without you! Your ongoing commitment to our organization is greatly appreciated.

Volunteers Needed

Thank you to those of you that have shown interest in volunteering for the NNPDF! Your time is invaluable to our NPD community. We are currently collecting resumes and letter of interest from those interested in volunteering skills and time to assist with focus groups, committee teams and even as a Board member. If you are interested in becoming a NNPDF volunteer, please let us know at [email protected] and we will follow up with you with the process for applying.

Please send all letters of interest by March 15th.

Coffee & Catching Up

JOIN US for Community Connections Coffee & Catching Up on Monday mornings at 11am EST! Connect with other Niemann-Pick community members who share your journey. Click here to register.

If you have any questions please contact Laurie Turner, Family Services Manager at [email protected] or 603-413-8707.

ASMD Update

Sanofi Genzyme is excited to announce the launch of a new educational phone line for the Acid Sphingomyelinase Deficiency (ASMD) community. ASMD is historically known as Niemann-Pick disease type A, A/B, and B. This phone line is staffed by patient education liaisons (PEL) who are available to speak with callers about ASMD symptoms, diagnosis, and other disease-related topics.

You can speak with an ASMD PEL Monday – Friday, 8 am – 8 pm ET by calling 1-800-745-4447, Option 3 for Patient Services, then press 1 “for more information on ASMD.”

This number and more ASMD-related information can also be found at www.ASMDFacts.com

MAT-US-2100595

INPDR Update

This month, the INPDR launched the first of a quarterly newsletter for professionals working with the Niemann-Pick disease community. The newsletter is an opportunity to keep readers informed of our operational progress, as well as recruitment updates. We will also be covering events and projects in the pipeline. A separate newsletter especially for patients, their families, friends and carers will be launched early in the Spring.

We need your help to make sure the newsletter is what you want it to be and tells you what you want to know. The team behind the INPDR are so excited about the difference our work can make to progress and the future for the Niemann-Pick community across the world but what really matters is what patients and their families think. Patients are at the heart of everything we do so it is our hope the newsletter will inform and inspire. What would you like to know?

There are no silly questions and over the coming months we will try to cover everything you want to know: How easy is it to sign up? Maybe you don’t understand what a patient registry like us is for? Perhaps it’s hard to see what difference our work will make? When your To-Do list is as long as your arm, why should you care about the INPDR?

Please feel free to get in touch through email ([email protected]), visit inpdr.org/contact-us/ or social media channels with questions, thoughts and ideas – whichever way you feel comfortable sharing your thoughts, we’d love to hear them.

You can also sign up to receive our quarterly newsletter by clicking here.

Learn more about INPDR here.

Emergency Hardship Program

The NNPDF Emergency Hardship Program offers help to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. This assistance program provides relief to members facing a situation that threatens their immediate health and safety, or that causes a terrible hardship. It is intended to provide short term financial assistance in a crisis situation and is not intended to address long term financial challenges.

If you have questions about this program, please contact Laurie Turner, Family Services Manager at 603-413-8707 or [email protected]. Applications will be reviewed by the NNPDF Emergency Hardship Program Committee consisting of 2 Board members and 3 members-at-large.

To be eligible for funding, NPD individuals and families must reside in the US and must be enrolled as a member of the NNPDF for a minimum of 6 months prior to requests*. Funding is available for up to $1000 per calendar year per eligible member. Families with multiple children with NPD are eligible to apply for each affected individual. The NNPDF Board of Directors and Emergency Hardship Program Committee members work to keep the fund fiscally sound, by being the last resort to be used, limiting regular, recurring use by any one recipient, and encouraging donations.

Download and complete fillable PDF application, and return via email to Laurie Turner at [email protected].

*Those with new diagnoses are eligible to apply if diagnosis was within 6 months of request.

Clinical Trial Updates

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

Updates from Cyclo Therapeutics: Cyclo Therapeutics Presents Positive Data from Clinical Development Program for Lead Candidate, Trappsol® Cyclo™, at WORLDSymposium 2021. Click here for complete announcement.

Update from Orphazyme: Orphazyme to showcase data on arimoclomol in Niemann-Pick disease Type C during the 2021 Annual WORLDSymposium. Click here for complete announcement.

Illustrate Your Imagination

HEY SUPERHEROES!

In recognition of Global Niemann-Pick disease Awareness Month, the Orphazyme team invites you to join us on a quest to “Illustrate Your Imagination.”

Our team often hears brave stories of your experiences living with Niemann-Pick disease and times when you took on challenges with deep personal courage, perseverance, care, and integrity. We’d like to help your super stories take flight.

Your mission, should you choose to accept it: Visit IllustrateYourImagination.com and download a kit to create your own comic. The kit is filled with page templates, instructions, and some flair to help bring your story to life. Submit your story to our online comic book gallery and check out submissions from other superheroes around the world.

We can’t wait to see the creative stories you come up with!

Regan Sherman
Head of Global Patient
Advocacy Relations
Orphazyme

Stay Connected With Us

A quick reminder that if you are not receiving our NNPDF monthly newsletter via email or have recently changed your address or email, please click here to join us or to update your information.

Supporting one another. Supporting our community.

January 2021

Newsletters

Message from the Executive Director

Dear NNPDF Friends and Family,

The first month of 2021 brought hope to some of our families yet fear and uncertainty to others in the Niemann-Pick community, highlighting the urgency our Niemann-Pick community faces for access to therapies. Now more than ever we need an FDA pathway that takes the unique realties of rare disease populations into account for regulatory approval and we need to ensure access to and affordability of off-label and supportive therapies benefitting our Niemann-Pick patients. NNPDF is here for all families and you are never alone on your journey. As your national patient organization, we are working tirelessly to represent the patient voice in the regulatory process and will continue to fight to bring treatments for ASMD and NPC. Remember together our voice is stronger!

If you have not had the chance to do so yet please join us for Coffee and Catching Up (informal drop-in support sessions). Weekly Coffee and Catching Up chats are held Mondays at 11:00am EST, and please watch for special Community Connections chats that are scheduled as needed.

Family Services continues to grow and we are pleased to launch the first Navigating Together small group support sessions for bereaved families. Contact Laurie Turner, Family Services Manager for more details at [email protected].

Thanks to all that participated in our NNPDF Challenges of Access & Insurance Survey. Over 79 families helped by sharing information about their burdens of insurance. This information is valuable to our community in many ways and also helps our industry partners as they move towards treatment approvals. NNPDF will be presenting a poster at the WORLDSymposium conference, held virtually in February (visit worldsymposia.org for details) and we will share the results publicly with a Community Update Webinar and publications.

In early February, you will be asked to update your membership enrollment information with NNPDF. This helps ensure you will receive our up-to-date news and information. Don’t miss out!

Rare Disease Day is February 28th! This day promotes raising awareness of rare diseases worldwide and their impact on patients’ lives. Watch for upcoming details on how you can participate in raising awareness of Niemann-Pick disease!

Warm Wishes,

Joslyn Crowe, MSW, MA
NNPDF Executive Director

Navigating Together: Support for all phases of Niemann-Pick disease

NNPDF Family Services is launching the new Navigating Together: Legacy Families program for our bereaved families beginning February 16th. Our program will include small group sessions for bereavement, grief, and loss (via Zoom online platform) led by Shoshanna Hecht, Licensed Clinical Social Worker, Executive + Personal Coach.

Sessions are at no cost to NNPDF community members and will require an 8-session commitment. Sessions will be held on Tuesdays at 8:00pm EST, from February 16 through April 6, 2021. Navigating Together: Legacy Families is for ASMD and NPC families that have lost a loved one.

If you would like to apply to participate in Navigating Together: Legacy Families sessions, please complete the application here. Space is limited so register early.

If you have any questions or would like more information about Navigating Together, please contact Laurie Turner, Family Services Manager at [email protected] or 603-413-8707.

Coffee & Catching Up

JOIN US for Community Connections Coffee & Catching Up on Monday mornings at 11am EST! Connect with other Niemann-Pick community members who share your journey. Click here to register.

If you have any questions please contact Laurie Turner, Family Services Manager at [email protected] or 603-413-8707.

Emergency Hardship Program

The NNPDF Emergency Hardship Program offers help to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. This assistance program provides relief to members facing a situation that threatens their immediate health and safety, or that causes a terrible hardship. It is intended to provide short term financial assistance in a crisis situation and is not intended to address long term financial challenges.

If you have questions about this program, please contact Laurie Turner, Family Services Manager at 603-413-8707 or [email protected]. Applications will be reviewed by the NNPDF Emergency Hardship Program Committee consisting of 2 Board members and 3 members-at-large.

To be eligible for funding, NPD individuals and families must reside in the US and must be enrolled as a member of the NNPDF for a minimum of 6 months prior to requests*. Funding is available for up to $1000 per calendar year per eligible member. Families with multiple children with NPD are eligible to apply for each affected individual. The NNPDF Board of Directors and Emergency Hardship Program Committee members work to keep the fund fiscally sound, by being the last resort to be used, limiting regular, recurring use by any one recipient, and encouraging donations.

NORD Addresses Rare Disease Community on COVID-19 Vaccines

NORD and partners recently hosted a COVID-19 Vaccines Update webinar for the rare disease community in an effort to provide information to rare disease patients and caregivers on the COVID-19 vaccines. The webinar discussed the expedited clinical trials that resulted in FDA’s issuing EUAs for the Pfizer-BioNTech and Moderna vaccines, the vaccines’ high rates of effectiveness, as well as the imminent arrival of more vaccines. The webinar is now available for on-demand video access, click here.

Newborn Screening

By Pam Crowley Andrews, Executive Director, Firefly Fund and Allison Rosen, 3D Communications for Firefly Fund

We are getting closer to the day when the first baby will be enrolled into the ScreenPlus newborn screening pilot program in New York state. The entire Niemann-Pick disease community eagerly awaits what we will learn about the possibilities of better outcomes for NPC and ASMD when we can diagnose and intervene earlier – possibly even from birth. This novel pilot study is being led by Melissa Wasserstein, MD, of Montefiore Hospital. On December 31st, the Austin American-Statesman published a feature article about Firefly Fund’s work in newborn screening and highlighted the importance of Dr. Wasserstein’s study for our community. Please read and share! Austin family helping to get NPC1 disorder onto newborn screening test.

Help for the Holidays 2020

Several NNPDF Community members had help in making their holidays a little brighter thanks to an anonymous special donor. Our donor family wished to help ease the burden of Holiday stress, knowing that living with NPD can be difficult and 2020 came with its own set of difficulties. THANK YOU to our donor family – “…you all made us very happy with your act of love.”

INPDR Update

Firstly, the INPDR would like to wish all our friends and families in the NNPDF community a happy New Year. We hope 2021 brings an upturn in the global response to the COVID pandemic and as such, some let up for the Niemann-Pick community. We also look forward to your renewed support as we continue to grow and implement many of the changes that we outlined in our Strategic Development Plan, released at the end of last year.

What this means for Niemann-Pick patients and families is that 2021 will ensure the INPDR is a robust and quality source for vital research. Of course, so much of the progress we can make for the Niemann-Pick community depends on recruiting patients and clinical sites to share their data with the Registry. The INPDR model of disease-specific global registry offers benefits for now and future generations within the Niemann-Pick community. Therefore, while we are doing all we can to make sure your registry meets appropriate regulations and standards, we urge patients and their families to contribute to the INPDR in whatever way they can.

If you are already sharing clinician reported data, we thank you – you are helping to make progress for better diagnosis, treatment and care for the Niemann-Pick community. Did you know you can also separately self-enrol and take part in the patient reported database? This is simple to do through our website www.inpdr.org. Even if you follow, like or comment on our social media channels, it helps us to reach other members in the Niemann-Pick community.

This year, we will be launching our first newsletters; one aimed at professionals and one aimed at patients, their families and supporters. We would be really interested to hear what sort of things you would like to hear about in our patients, families and supporter’s newsletter.

Please feel free to get in touch through email, our website or social media channels with thoughts and ideas – we’d like to make sure the newsletter helps the community understand a little bit more about the power of patient data in the INPDR.

You can also sign up to receive our quarterly newsletter by clicking here.

Learn more about INPDR here.

In the Spotlight

Wendy Hopkin

Grandmother of Garrett Hopkin, ASMD
Mother of Justin Hopkin, NNPDF Board Chair

Tell us a bit about yourself, such as where do you live and what do you enjoy doing.
I am the 65-year-old grandmother and #1 fan of my amazing family. I was previously a school secretary and a legal secretary but have been retired for three years. I live at the base of the Wind River Mountains in Lander, Wyoming. My husband Terry, retired teacher and coach, and I raised our sons, Justin and Lance, in Wyoming. I embrace our mountains and wide-open spaces (especially this year!) by hiking, camping, skiing, and biking. I also relish going on adventures with my kids and grandkids, and have been all over the country with them.

When did you learn about Garrett’s diagnosis? What were your initial thoughts and concerns?
My husband and I learned of Garrett’s diagnosis in June of 2011. Garrett was a little over one year old. Justin explained the nature of the disease to us, that it was genetic, that there were different types, and the outcomes for each. We knew that Garrett was not well, but we knew nothing about Niemann-Pick. I recall my mind was in a fog, and I was certain modern medicine had a cure for whatever this disease was. We just had to find the physicians and hospital that could treat it. Following that, I was fairly certain that Justin, Courtney, Avery, Grady and Garrett would have to leave Lander to seek medical treatment for Garrett. It was a double whammy.

What were the first steps you took after his diagnosis?
Initially, I buried my head in the sand. I hoped, prayed, wished on stars that it was a mistake or would somehow just go away. Once I did accept Garrett’s diagnosis, the most important thing I did was get tested for Niemann-Pick and encourage my family members to do the same. This data is critical. I became more knowledgeable about Niemann-Pick, I asked questions, researched, and tried to be involved and as supportive as possible for my family.

What have you been able to do in your role as a grandparent?
Eventually, our “Hopkin 5” did move to New York for Garrett’s treatment. I was fortunate enough to be able to go to one of Garrett’s infusions at Mount Sinai and witness firsthand the entire process. For me, seeing is believing. From hotel staff to nurses, everyone there treated Garrett like a little celebrity… much as he was in Lander. That was my turning point. I knew Garrett was where he needed to be. I then joined NNPDF, attended Family Conferences and webinars, and donated to the Foundation. Now that Garrett’s family lives in New York I cannot do much for them physically, but we stay in very close contact. Let me say FaceTime is a lifesaver.

How did you learn about NNPDF?
After Garrett was diagnosed, Courtney began reaching out to other Niemann-Pick families. Ultimately, her contacts and research led her to NNPDF. Over time, we all became aware of this small organization trying to do great things for the patients and families battling this rare disease.

What caused you to get involved with NNPDF initially and how has being an NNPDF member made an impact on your family?
Once Courtney and Justin became involved with NNPDF, they told us they wanted to fundraise for the organization. Hence the birth of Golf for Garrett and my introduction to the Foundation. I soon realized how vital NNPDF is to the Niemann-Pick community. Aside from being a resource for families, the organization is in constant contact with researchers, doctors, pharmaceutical companies – anyone who can help their cause. NNPDF addresses all aspects of the disease. Being a member impacts my family because I have a grandson who benefits from it daily and a son, who in his capacity as dad and Board Chair of the National Niemann-Pick disease Foundation, is constantly advocating for all those affected by Niemann-Pick.

What advice do you have for other grandparents and extended family?
If you can, I would encourage you to attend a NNPDF Family Conference. You will meet the patients, their families, the NNPDF Staff, the volunteers and the experts. These people are our heroes and our hope. The second piece of advice is this: Even though Garrett has ASMD, he is one of the happiest, funniest, and most loving people I know. His disease does not define him. He is special – just like all of my grandchildren. Just love them, support them, and cheer them on.

Clinical Trial Updates

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

Updates from Cyclo Therapeutics: Cyclo Therapeutics announces upcoming presentations on its clinical and drug development program for lead candidate, Trappsol® Cyclo™, at WORLDSymposium 2021. Click here for complete announcement.

Cyclo Therapeutics announces positive efficacy data from Extension Protocol with Trappsol® Cyclo™ in patients with NPC. Click here for complete announcement.

Update from Mallinckrodt Pharmaceuticals: Mallinckrodt Pharmaceuticals has shared an important update regarding the adrabetadex (VTS-270) clinical development program with us for the NPC community. Click here for complete announcement.

Update from Orphazyme: Orphazyme provides regulatory update on arimoclomol for Niemann-Pick disease type C. Click here for complete announcement.

Illustrate Your Imagination

HEY SUPERHEROES!

In recognition of Global Niemann-Pick disease Awareness Month, the Orphazyme team invites you to join us on a quest to “Illustrate Your Imagination.”

Our team often hears brave stories of your experiences living with Niemann-Pick disease and times when you took on challenges with deep personal courage, perseverance, care, and integrity. We’d like to help your super stories take flight.

Your mission, should you choose to accept it: Visit IllustrateYourImagination.com and download a kit to create your own comic. The kit is filled with page templates, instructions, and some flair to help bring your story to life. Submit your story to our online comic book gallery and check out submissions from other superheroes around the world.

We can’t wait to see the creative stories you come up with!

Regan Sherman
Head of Global Patient
Advocacy Relations
Orphazyme

Stay Connected With Us

A quick reminder that if you are not receiving our NNPDF monthly newsletter via email or have recently changed your address or email, please click here to join us or to update your information.

Supporting one another. Supporting our community.

December 2020

Newsletters

Message from the Executive Director

Dear NNPDF Friends and Family,

December brings a lot of reflection. A review of the year, it’s ups and downs, and a time to pause and reflect on hopes for the new year. The holiday season can be joyous and uplifting yet it is also sad, challenging, and overshadowed by loss for many families. Complex emotions and tangled experiences are all too common for families facing rare diseases. NNPDF is here to support you, as a partner on the Niemann-Pick journey. Our resources are available to all families and no one need feel alone.

In the new year we will continue to grow our Family Services programs, including our new Navigating Together support program (*registration required), weekly informal drop-in support sessions like Coffee & Catching Up (beginning again Monday, January 11th at 11am EST), programs for siblings, and our Emergency Hardship Program. We will continue to represent the patient voice in the regulatory process, working tirelessly to bring treatments for ASMD and NPC through the FDA approvals process. We will continue to advocate for newborn screenings for ASMD and NPC Niemann-Pick families, to advocate when legislation is needed, and to help families better understand the complexities of health insurance and entitlements. We will empower community members to advocate on behalf of themselves and all Niemann-Pick families, including on Capitol Hill during Rare Disease Week. We are working towards a future with FDA approved medical treatments and a diagnosis that comes with hope not fear.

Thank you for supporting us this year so that we can best support you.

Warm Wishes,

Joslyn Crowe, MSW, MA
NNPDF Executive Director

2020 Memorials

As 2020 comes to a close, we remember not only the families of those we’ve lost, but of those that remain. Please join the NNPDF in keeping all of our families in our thoughts now and throughout the year.

Grief Around the Holidays

by Miranda Feinberg, NNPDF Intern

Happy occasions and special events are meant to be shared with loved ones and those we hold dear. When we lose a loved one, though, such events become hard to bear. Loss makes the moments that once represented positivity and happy memories warped and ruined. It’s not only normal, but completely expected to grieve harder around special occasions. As Serina Heinze, a member of our NNPDF community, says in her blog post The Grief Who Stole Christmas, “[the holidays are] just like a magnifying glass on the reminder that someone they love is gone.”

One way that Serina focuses on the way grief affects holidays or special occasions is how yearly traditions become disrupted or hollowed. What once might have been enjoyed every year and associated with specific holidays no longer feels special. The tradition is no longer the same; something is missing, someone is gone. Traditions and routines are so ingrained in our everyday lives, so when some part of them is changed and disrupted, the tradition itself becomes troublesome and harmful to our everyday lives. Furthermore, the special-ness of holidays and the magic that is tied to them can conflate the importance of traditions in a way that makes the loss of such traditions even more distressing. Serina uses Christmas as an example of a special occasion with many long-held traditions that can be irrevocably affected by loss. She describes how, after loss, the winter snow transformed from exciting and magical to gloomy and cold, how putting up the Christmas tree became a chore, and how holiday parties became something to be avoided rather than attended.

The loss of a loved one is felt deeply at those times where there was once so much happiness. The loss of that person becomes tied to the loss of those traditions. The simultaneous feelings of grief and sadness mixed with the knowledge that everyone around you is still enjoying those once-special holidays can be very upsetting. Serina acknowledges all of these negative holiday transformations that are born of loss, but she also shares ways that she has begun to move forward. One suggestion she has is to make new traditions. Holding onto the past, resolutely unable to move forward, can immortalize the pain and prevent any healing that could happen during those holidays. Serina suggests using new traditions as a way to remember and move forward; as she says, “it won’t be the same and it never will be, but start a tradition that brings the memory of your loved one back to the holiday season.”

Moving forward is never about forgetting, but about creating something new. Serina suggests lighting a candle in honor of your loved one(s) or going around and sharing favorite memories about your lost loved one(s). Maybe you can make your loved one’s favorite meal or do something that they particularly liked. Creating some new tangible tradition is a good way to express the idea that even though your loved one is gone, the love you feel for them will always remain. It also helps to plan ahead and stay in control when you are approaching an event that you know will be painful. Remember that while it is important to allow yourself to feel and to grieve, it might be healthy to set boundaries for yourself and familiarize yourself with what is harmful and what is helpful to experience. If certain traditions are too painful to bear or certain events are too hard to attend, then don’t force yourself to experience them. Spend time with the people around you and focus on the positives wherever they are.

Coffee & Catching Up

JOIN US for Community Connections Coffee & Catching Up on Monday mornings at 11am EST! Connect with other Niemann-Pick community members who share your journey. Click here to register.

If you have any questions please contact Laurie Turner, Family Services Manager at [email protected] or 603-413-8707.

Newborn Screening

By Pam Crowley Andrews, Executive Director, Firefly Fund and Allison Rosen, 3D Communications for Firefly Fund

What a Year: 2020 Review for NPC Newborn Screening Initiative
In some ways it’s hard to believe we’re about to turn the page to 2021. In others, it’s surprising we’re not about to enter 2022. COVID-19 has laid a heavy burden across the world. Certainly, the NPC community was not immune. Despite all of the challenges brought about by the pandemic, Firefly Fund’s Newborn Screening Initiative completed a productive year – and we are excited about what is in store for the new one.

First, with the generous support of our many sponsors and funders, we were able to commit $500,000 to support the novel ScreenPlus newborn screening pilot study that expects to screen its first neonate in early 2021. Dr. Melissa Wasserstein and her team at Montefiore have worked tirelessly – amidst the spread of the coronavirus – to finalize details for the study which includes NPC among disorders that parents will have the option to screen for at birth. Eight high birth rate hospitals in New York are initially on board and it’s expected to screen about 175,000 newborns over 5 years.

We also were able to design and launch a truly innovative study with AllStripes that will – using patient health records – research the impact of earlier intervention in NPC. The study will compare health outcomes of siblings with NPC, looking at possible differential outcomes based on timing of intervention, where one child may be diagnosed following onset of symptoms that triggers the diagnosis of another child who is diagnosed before the onset of visible symptoms. If you are a parent with multiple children affected by NPC, or know someone who is, please look into participating in this critical research by visiting allstripes.com/npc.

Finally, while we of course would have much preferred to meet face-to-face, we held our second annual Clinical Roundtable – but our first virtual one! Twenty experts (along with more than 20 community and industry supporters) convened on a Zoom meeting to review new information and discuss questions to help align expert opinion on the timing for intervention for NPC when a child is diagnosed in a newborn screening context. Co-chairs Drs. Elizabeth Berry-Kravis and Marc Patterson asked the experts a series of questions including, whether treatment modality matter to timing of intervention; should patients experience a certain change in rate of developmental decline before initiating treatment; and How do we monitor developmental change and neurological function? We are compiling comprehensive notes from the meeting and will be sharing with the full team in early 2021.

The NPC Newborn Screening Initiative is a program of the Firefly Fund. NNPDF is proud to support this initiative as an active Working Group member.

Congratulations to our NNPDF Community Game Winners!

Congratulations to Denise Sousa, Becky McGuire, and Daniel Worley, our top 3 winners! Thank you to all who participated.

The NNPDF Community section of the app keeps you connected to NNPDF friends and families, and up-to-date on our latest news, updates, and programs throughout the year. The NNPDF Community Mobile App is available through the App Store and on Google Play.

In the Spotlight

Kaila Guy, ASMD

Tell us a bit about yourself, such as where do you live and what do you enjoy doing.
My wife, Jennifer, and I (David) both grew up in Massachusetts and up until a month ago lived in Brookline, MA (right next to Boston). We have recently relocated to Sarasota, FL to enjoy a warm winter, while my office in Boston is closed. I’m the Chief Compliance Officer for Devonshire Investors, a private equity and venture capital firm, and Jennifer is a ballet teacher. We have two girls Kaila, 13 (with ASMD) and Collette, 7.

My wife hoped to have little ballerina’s, but my girls turned in the ballet slippers for gymnastics. Both girls compete competitively, and we spend most our week shuttling our girls back and forth to gymnastics. Seeing Kaila excel at gymnastics and her little sister try to keep up is what I enjoy most.

When did you receive your diagnosis? What led you to diagnosis?
Kaila received her diagnosis at the age of 5. Her stomach was noticeably distended starting at age two-three, but her pediatrician told us it was baby fat and she would grow out of it. At age 5, my wife brought my daughter in for a checkup for an ear infection, and the doctor on call started feeling her stomach and thought she felt Kaila’s spleen and liver.

For about 4 months doctors at Boston Children Hospital tested Kaila just about every week for everything they could imagine. They originally thought she had leukemia, then diagnosed her with children’s mono, and then thought she had leukemia again. Kaila’s spleen and liver were extremely large, and her cholesterol and triglyceride levels hovered between 400-500 mg/DL.

Researching Kaila’s symptoms on the internet, my wife and I came across Niemann-Pick disease on a website. The symptoms matched our daughter’s symptoms and we asked the doctors to test for the disease. At the same time, we had our genetics tested. Three weeks later the doctor’s told us they thought Kaila had Niemann-Pick Type B (A was ruled out because she was alive) and she was the first case in the hospital’s history. The doctors literally handed us a piece of paper with numbers to call and stated they were not sure of the next steps. Immediately after we received the diagnosis, the genetics organization called telling my wife she carried the Niemann-Pick Type B gene and I carried the Niemann-Pick Type A gene.

What were the first steps you took after diagnosis?
We called the numbers on the piece of paper. One was a number to an individual who was affiliated with the hospital and worked at Genzyme. He had co-authored a few papers on Niemann-Pick Type B. The other number we called was the number to the NNPDF.

Genzyme almost immediately invited us into their office, as Kaila was the first known case in Massachusetts, and we lived a few miles from the office. Genzyme provided us a background on the disease and their hope for a treatment.

How did you learn about NNPDF?
The doctors at the hospital provided us the director of the NNPDF’s phone number. We spoke with the NNPDF director for about an hour and also joined the Facebook page.

What caused you to get involved with NNPDF initially and how has being an NNPDF member benefitted your family?
We really wanted to push hard for a treatment and the thought the best path forward was through the foundation. Additionally, the foundation gave us an opportunity to meet other families and help other families, where possible, as much as we possibly could.

Further, the NNPDF has provided us an opportunity to speak with the FDA in-person to express the need for a treatment. I think that conversation and providing our experience with ASMD will hopefully go a long way in getting the treatment across the finish line.

What impact has ASMD had on your life?
I think it brought us closer as a family. Definitely ended up spending a lot of nights together traveling and staying in crammed New York City hotel rooms. It also expanded our family, as we adopted a cat near Mt. Sinai hospital.

Additionally, we found an incredible support group of other families, who have become like family members. It has been a wild ride, but I think there is a lot of hope for the future.

What are your hopes for the future for yourself and for the Niemann-Pick community?
Our hope is for everyone in the world to have access to the treatment. Since Kaila began the clinical trial almost 5 years ago, she has transformed into an incredible kid and gymnast. We are keeping our fingers crossed that 2021 will be an amazing year with an FDA approved treatment.

What Does NNPDF Mean to You?

We are looking for your help! Connecting with others by sharing YOUR story is how our community can support one another. Will you share your story on what NNPDF means to you? These stories will be included in our upcoming newsletters, shared on our social pages and with some of our partners. Send your stories, along with a photo to [email protected].

Pfrieger’s Digest

“Pfrieger’s Digest” is written by Frank Pfrieger of Niemann-Pick Selbsthiifegruppe (Germany) to provide an overview of the latest advances in Niemann-Pick disease based on recent scientific publications.

Frank Pfrieger is group leader at the Institute of Cellular and Integrative Neurosciences in Strasbourg (France), which is part of the French Centre National de la Recherche Scientifique (CNRS) and affiliated with the University of Strasbourg. His research focuses on cholesterol metabolism in the brain and the mechanisms of neurodegeneration in Niemann-Pick type C disease.

Frank entered the field of Niemann-Pick type C disease 17 years ago. His previous research had raised fundamental questions about how cells in the brain meet their need for cholesterol, and defects in NPC1 appeared as a good model to test our hypotheses. Over time, he met patients, their parents and friends, and he realized the need to explain what research is all about, why it takes so long and what it takes to make progress. For several years, Frank wrote conference reports for the German NPC association. Beginning of 2020, he created “Pfrieger’s Digest”, a sort of “magazine” that informs non-specialists about the latest advances in the field based on scientific publications.

Pfrieger’s Digest – Issue 01/2020
Pfrieger’s Digest – Issue 02/2020
Pfrieger’s Digest – Issue 03/2020

Family Journeys Blog

The Family Journeys Blog posts have been updated for the month of November. Follow our 4 NNPDF families from across the country as their share monthly updates to bring some light and positivity to our community! Our blogger families share personal, uplifting, hopeful stories to show what it means to be living with Niemann-Pick disease. Check out the blog!

Illustrate Your Imagination

HEY SUPERHEROES!

In recognition of Global Niemann-Pick disease Awareness Month, the Orphazyme team invites you to join us on a quest to “Illustrate Your Imagination.”

Our team often hears brave stories of your experiences living with Niemann-Pick disease and times when you took on challenges with deep personal courage, perseverance, care, and integrity. We’d like to help your super stories take flight.

Your mission, should you choose to accept it: Visit IllustrateYourImagination.com and download a kit to create your own comic. The kit is filled with page templates, instructions, and some flair to help bring your story to life. Submit your story to our online comic book gallery and check out submissions from other superheroes around the world.

We can’t wait to see the creative stories you come up with!

Regan Sherman
Head of Global Patient Advocacy Relations
Orphazyme

Clinical Trial Updates

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

Update from Orphazyme: Orphazyme provides regulatory update on arimoclomol for Niemann-Pick disease type C. Click here for complete announcement.

Community News Updates

Cyclo Therapeutics announces pricing of $12.5 million public offering. Click here for complete announcement.

Orphazyme has shared a statement for the NPC Community regarding the resignation of CEO Kim Stratton. Click here to read complete statement.

Emergency Hardship Program

The NNPDF Emergency Hardship Program offers help to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. This assistance program provides relief to members facing a situation that threatens their immediate health and safety, or that causes a terrible hardship. It is intended to provide short term financial assistance in a crisis situation and is not intended to address long term financial challenges.

If you have questions about this program, please contact Laurie Turner, Family Services Manager at 603-413-8707 or [email protected]. Applications will be reviewed by the NNPDF Emergency Hardship Program Committee consisting of 2 Board members and 3 members-at-large.

To be eligible for funding, NPD individuals and families must reside in the US and must be enrolled as a member of the NNPDF for a minimum of 6 months prior to requests*. Funding is available for up to $1000 per calendar year per eligible member. Families with multiple children with NPD are eligible to apply for each affected individual. The NNPDF Board of Directors and Emergency Hardship Program Committee members work to keep the fund fiscally sound, by being the last resort to be used, limiting regular, recurring use by any one recipient, and encouraging donations.

Stay Connected With Us

A quick reminder that if you are not receiving our NNPDF monthly newsletter via email or have recently changed your address or email, please click here to join us or to update your information.

Supporting one another. Supporting our community.

November 2020

Newsletters

Message from the Executive Director

Dear NNPDF Friends and Family,

Thanksgiving is almost here and while this year’s gatherings will be smaller and quieter than normal, the pause we take over the next few days from our hectic lives gives us some space and time to reflect. As I consider all that I am grateful for this year, I am especially grateful for your support of NNPDF through the donations by your family, friends, and local business supporters, for the volunteer time given by so many of you, for helping us promote awareness of Niemann-Pick disease by sharing our social media posts and e-blasts, and for your input and suggestions about what types of programs and supports are needed for you and your family. I am grateful for everyone working together to find treatments for Niemann-Pick disease including the families participating in clinical trials, and the researchers, scientists, and clinicians working with Niemann-Pick families. And I am hopeful that the future of Niemann-Pick will be filled with hope and possibilities for longer, healthier lives.

The holiday season is not easy for everyone. For many families in the Niemann-Pick community it is a stark reminder of the loss of loved ones. For others, financial challenges feel even more difficult in the whirlwind of holiday gift giving. Please remember that you are not alone. NNPDF is here for you – to talk, to connect with other families, to listen to your stories, and to support you. Contact us any time and please access any and all of the resources we have, including insights from community member Serina Heinze on handling grief around the holidays, NNDPF’s Emergency Hardship Program, and this season’s special Help for the Holidays program, helping to ease the burden of holiday stress while promoting family togetherness.

Wishing everyone a peaceful holiday weekend,

Joslyn Crowe, MSW, MA
NNPDF Executive Director

Grief Around the Holidays

by Miranda Feinberg, NNPDF Intern

Happy occasions and special events are meant to be shared with loved ones and those we hold dear. When we lose a loved one, though, such events become hard to bear. Loss makes the moments that once represented positivity and happy memories warped and ruined. It’s not only normal, but completely expected to grieve harder around special occasions. As Serina Heinze, a member of our NNPDF community, says in her blog post The Grief Who Stole Christmas, “[the holidays are] just like a magnifying glass on the reminder that someone they love is gone.”

One way that Serina focuses on the way grief affects holidays or special occasions is how yearly traditions become disrupted or hollowed. What once might have been enjoyed every year and associated with specific holidays no longer feels special. The tradition is no longer the same; something is missing, someone is gone. Traditions and routines are so ingrained in our everyday lives, so when some part of them is changed and disrupted, the tradition itself becomes troublesome and harmful to our everyday lives. Furthermore, the special-ness of holidays and the magic that is tied to them can conflate the importance of traditions in a way that makes the loss of such traditions even more distressing. Serina uses Christmas as an example of a special occasion with many long-held traditions that can be irrevocably affected by loss. She describes how, after loss, the winter snow transformed from exciting and magical to gloomy and cold, how putting up the Christmas tree became a chore, and how holiday parties became something to be avoided rather than attended.

The loss of a loved one is felt deeply at those times where there was once so much happiness. The loss of that person becomes tied to the loss of those traditions. The simultaneous feelings of grief and sadness mixed with the knowledge that everyone around you is still enjoying those once-special holidays can be very upsetting. Serina acknowledges all of these negative holiday transformations that are born of loss, but she also shares ways that she has begun to move forward. One suggestion she has is to make new traditions. Holding onto the past, resolutely unable to move forward, can immortalize the pain and prevent any healing that could happen during those holidays. Serina suggests using new traditions as a way to remember and move forward; as she says, “it won’t be the same and it never will be, but start a tradition that brings the memory of your loved one back to the holiday season.”

Moving forward is never about forgetting, but about creating something new. Serina suggests lighting a candle in honor of your loved one(s) or going around and sharing favorite memories about your lost loved one(s). Maybe you can make your loved one’s favorite meal or do something that they particularly liked. Creating some new tangible tradition is a good way to express the idea that even though your loved one is gone, the love you feel for them will always remain. It also helps to plan ahead and stay in control when you are approaching an event that you know will be painful. Remember that while it is important to allow yourself to feel and to grieve, it might be healthy to set boundaries for yourself and familiarize yourself with what is harmful and what is helpful to experience. If certain traditions are too painful to bear or certain events are too hard to attend, then don’t force yourself to experience them. Spend time with the people around you and focus on the positives wherever they are.

Help for the Holidays

NNPDF is excited to share that an anonymous donor has offered to help make the holidays a little brighter for those in need! Living with Niemann-Pick disease can be difficult for families and 2020 has come with its own set of difficulties. Our donor family wishes to help ease the burden of Holiday stress while promoting family togetherness and enjoyment by helping with some wish list items for Niemann-Pick families.

Our donor family has asked the items on your wish list encourage family enjoyment, such as fun family activities, crafts, toys, and games, etc. Wish List items could also be items of urgent need such as winter coats, boots, gloves, etc. Families in need will be asked to complete an application which will include a link to a personally created Amazon Wish List. Eligible families will be selected at random and will be notified no later than 12/10 if selected. Wish list items will be shipped to your home via Amazon.

Holiday help recipients are limited to NNPDF members residing in the US. Applications will be accepted until December 4th at 5pm EST.

PLEASE NOTE: Your Amazon Wish List Link must be included in your application. Please create one Amazon Wish list for your immediate family members living in your home. (Click here to learn how to create your list.)

After you’ve created your Amazon Wish List, click Send List to Others, copy your link from the View Only option, and paste your link in the application where requested.

NNPDF In Action

Advice From a Niemann-Pick disease Mom: Avoid Google Taylor Sabky explains how she came to learn about this devastating disease. Read her story here.

Advocating for ASMD: A Rare Disease Story Taylor Sabky shares her journey in learning about ASMD. Read article here.

To Help and Be Helped Taylor Sabky shares how helping can bring healing. Read more here.

How Patient Advocacy Groups are Adapting to Covid-19 Justin Hopkin, MD, NNPDF Board Chair talks about the changes made to keep our community connected and during Covid-19. Click here watch the video.

New Treatments May Be Available for Niemann-Pick disease Soon NNPDF Executive Director, Joslyn Crowe, shares about programs developed to prepare families for when Niemann-Pick treatments get approved. Watch video here.

Firefly Fund Chat: NNPDF Pam and Chris Andrews have a conversation with NNPDF Executive Director Joslyn Crowe and Board Chair Justin Hopkin about their journeys to NNPDF, the resources NNPDF provides, and what is on the horizon. Listen here.

Teacher’s mission: Defeat disease that cost her son his life By sharing Purnell’s story, Taylor Sabky puts a human side to ASMD. Read more.

Community Update Webinar Series: ASMD Clinical Update

Thank you to all who joined for the ASMD Clinical Update webinar. If you were unable to join us or would like to watch again, the recording is now available. Click here!

Illustrate Your Imagination

NPC1 Interview Research Study: Worldwide Clinical Trials is looking for approximately 10-15 individuals who are currently caring for someone with NPC1 in the US, to participate in an interview survey where you will be asked questions about symptoms and impacts the person you are caring for may have experienced as a result of their condition.

NPC Therapy Accelerator: Families or caregivers of persons with Niemann-Pick Type C are invited to take a survey that is designed to collect information about your priorities and preferences for treating Niemann-Pick Type C. Information collected here is important to help the U.S. FDA understand your thoughts and feelings about potential treatments for NPC.

Click here for complete information for surveys listed above.

Illustrate Your Imagination

HEY SUPERHEROES!

In recognition of Global Niemann-Pick disease Awareness Month, the Orphazyme team invites you to join us on a quest to “Illustrate Your Imagination.”

Our team often hears brave stories of your experiences living with Niemann-Pick disease and times when you took on challenges with deep personal courage, perseverance, care, and integrity. We’d like to help your super stories take flight.

Your mission, should you choose to accept it: Visit IllustrateYourImagination.com and download a kit to create your own comic. The kit is filled with page templates, instructions, and some flair to help bring your story to life. Submit your story to our online comic book gallery and check out submissions from other superheroes around the world.

We can’t wait to see the creative stories you come up with!

Regan Sherman
Head of Global Patient Advocacy Relations
Orphazyme

Join the NNPDF Community Game!

Check out the new COMMUNITY GAME and play along to win a prize! Follow the directions below to get started. Game ends November 30th!

The NNPDF Community section of the app keeps you connected to NNPDF friends and families, and up-to-date on our latest news, updates, and programs throughout the year. The NNPDF Community Mobile App is available through the App Store and on Google Play.

Family Journeys Blog

The Family Journeys Blog posts have been updated for the month of November. Follow our 4 NNPDF families from across the country as their share monthly updates to bring some light and positivity to our community! Our blogger families share personal, uplifting, hopeful stories to show what it means to be living with Niemann-Pick disease. Check out the blog!

INPDR Update

Last month we were hoping to share some exciting news about recruitment of a US-based Clinical Research Associate as part of a project backed by the Ara Parseghian Medical Research Fund, so we are delighted to welcome Lakeisha Simmons to role.

Lakeisha has over 14 years of experience in the field of clinical research in a variety of roles. She has worked on many therapeutic trials such as infectious disease, cardiovascular, oncology and respiratory, holding a variety of positions including Study Coordinator, Clinical Research Associate and Clinical Lead. Lakeisha will be working with existing clinical sites signed up to the INPDR, as well as bringing new ones onboard to support focussed efforts to enhance recruitment to the Registry across the US so your next appointment could be a great time to discuss signing up to the INPDR with your clinician.

This is such an important milestone for the INPDR, which could not have been achieved without the support of the NNPDF. We are looking forward to boosting recruitment in the US, which will result in better research and progress for the Niemann-Pick community in the US and around the world.

You can find out more about our plans in the newly officially published Strategic Business Plan 2020 – 2022, which sets out our ambitious targets for the next few years and what difference it will make for Niemann-Pick patients and their families. We will be focusing on some key themes in the document over the coming weeks on our social media channels and in our next update to you all. The problem as many of you will already be aware is that data for a rare disease like Niemann-Pick can be hard to curate, which can mean diagnosis, treatment and care are slow and/or ineffective. The INPDR can solve this problem through Niemann-Pick patients around the world sharing their data and offering a rich, natural history that can be researched and studied to develop more accurate diagnosis, better treatments and the right care – every patient matters.

Thank you for sharing our vision and your data. Remember, if you have any questions about the INPDR, please get in touch – we are always happy to help.

Clinical Trial Updates

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

Update from Cyclo Therapeutics: Cyclo Therapeutics announces two presentations at WORLDSymposium2021. CLICK HERE for complete announcement.

Emergency Hardship Program

The NNPDF Emergency Hardship Program offers help to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. This assistance program provides relief to members facing a situation that threatens their immediate health and safety, or that causes a terrible hardship. It is intended to provide short term financial assistance in a crisis situation and is not intended to address long term financial challenges.

If you have questions about this program, please contact Laurie Turner, Family Services Manager at 603-413-8707 or [email protected]. Applications will be reviewed by the NNPDF Emergency Hardship Program Committee consisting of 2 Board members and 3 members-at-large.

To be eligible for funding, NPD individuals and families must reside in the US and must be enrolled as a member of the NNPDF for a minimum of 6 months prior to requests*. Funding is available for up to $1000 per calendar year per eligible member. Families with multiple children with NPD are eligible to apply for each affected individual. The NNPDF Board of Directors and Emergency Hardship Program Committee members work to keep the fund fiscally sound, by being the last resort to be used, limiting regular, recurring use by any one recipient, and encouraging donations.

Stay Connected With Us

A quick reminder that if you are not receiving our NNPDF monthly newsletter via email or have recently changed your address or email, please click here to join us or to update your information.

Supporting one another. Supporting our community.

October 2020

Newsletters

Message from the Executive Director

Dear NNPDF Friends and Family,

October is Niemann-Pick Awareness month and throughout this month NNPDF has been raising awareness of Niemann-Pick disease through media interviews, community events, events with pharmaceutical partners, social media content, and our new video “Turning the Impossible Into Possible” featuring the faces of many friends and family members from throughout the country.

We have called upon several community members to share their stories publicly to highlight the severity of this disease and the urgency in having approved treatments and those efforts are greatly appreciated.

Our efforts don’t stop once the official awareness month is over. We continue to advocate on your behalf, to work towards available treatments, and to provide a family support system for Niemann-Pick families in the US. We do this through:

Family Services programs, personal connections, clinical information, and referrals for all families at all stages of their Niemann-Pick journey.

Advocacy programs to represent the patient and caregiver voice with the FDA, legislators, payers, and more, working to bring FDA-approved treatments to all families.

Research fellowships to foster scientific advancements and one day find a cure.

Emergency Hardship Program for those in dire need.

The International Niemann-Pick disease Registry to coordinate clinical and patient data globally and further future medical knowledge and treatment of Niemann-Pick.

Special programs for unaffected siblings and families of loss.

Annual Family Support & Medical Conference bringing together the largest US gathering of Niemann Pick families, clinicians, and researchers, for interactive learning, sharing, and family programs.

We do it for you but we can’t do it without you! Your participation and support matters for our Niemann-Pick families. Together, we can make a difference this month and beyond.

Fondly,

Joslyn Crowe, MSW, MA NNPDF
Executive Director

Niemann-Pick Awareness Month

Now is your chance to get awesome NNPDF gear!

For a limited time our NNPDF Pop-Up Online Store will be accepting orders for your NNPDF T-Shirts, Jackets, Hats and more! The online store will be open through November 21st. NNPDF gear will make great gifts for the Holidays with direct shipping.

NNPDF In Action

Doctor, Parent, and Rare Disease Advocate Dr. Justin Hopkin, NNPDF Board Chair, shares his family’s’ story with Patient Worthy. Read his story here.

Invisible Threads: Uncovering the Purpose of Community Connections For Isabelle and Garrett’s families, connecting to others living with a rare disease offered answers, courage and hope. Read article here.

NNPDF’s Executive Director, Joslyn Crowe, spoke to CheckRare about How Families Cope with a New Rare Disease Diagnosis. Watch here.

Living Beyond My Rare Disease Evren Ayik descibes life living with ASMD in a recent article published by The Mighty. Click here to read more.

Why Awareness Days Matter to Me as a Parent of a Kid With a Rare Disease Meghann Ferguson, NNPDF Board member, spoke to The Mighty about why Niemann-Pick Awareness month matters. Read her story here.

Thank you to Global Genes for raising awareness of Niemann-Pick disease with this Rare Leaders Report profile feature article of NNPDF Executive Director, Joslyn Crowe. Read article here.

Newborn Screening Clinical Roundtable Set for November

NNPDF is looking forward to Firefly Fund’s NPC Newborn Screening Clinical Roundtable set for Nov 13. The virtual meeting will be the second time that NPC and NBS expert clinicians and researchers will come together with a focus on when to intervene after a positive diagnosis of NPC through newborn screening. The meeting will include an update from Dr. Melissa Wasserstein of Montefiore on the launch of Screen Plus, an update from AllStripes LLC (formerly RDMD) on the NPC Sibling Study, as well as a first glance at a draft model for initiation of treatment. In addition to the 20+ roundtable experts, many NPC community and industry stakeholders will also be attending as observers of this important discussion.

Illustrate Your Imagination

HEY SUPERHEROES!

In recognition of Global Niemann-Pick disease Awareness Month, the Orphazyme team invites you to join us on a quest to “Illustrate Your Imagination.”

Our team often hears brave stories of your experiences living with Niemann-Pick disease and times when you took on challenges with deep personal courage, perseverance, care, and integrity. We’d like to help your super stories take flight.

Your mission, should you choose to accept it: Visit IllustrateYourImagination.com and download a kit to create your own comic. The kit is filled with page templates, instructions, and some flair to help bring your story to life. Submit your story to our online comic book gallery and check out submissions from other superheroes around the world.

We can’t wait to see the creative stories you come up with!

Regan Sherman
Head of Global Patient
Advocacy Relations
Orphazyme

In the Spotlight

Becky McGuire

NNPDF Vice Chair
Cousin of Kelly Thompson, NPC

Tell us a bit about yourself, such as where do you live and what do you enjoy doing.
I grew up in Bristol and New Hartford and graduated as a student athlete from Marist College. Additionally, I hold a master’s degree in integrated marketing communications from Marist. I have worked in the non-profit sector for more than 15 years. As an accomplished gymnast through my high school years, I credit the sport with providing a strong foundation for my work ethic. In my free time, I enjoy running, cross-training and lifting, and spending time with my family. My husband, Brad, who is the Athletics Director at the Foote School, and I live in Torrington with our three children, Grady, Carson and Kenna, and our dog, Hallie.

When did your cousin receive her diagnosis? What led her to diagnosis?
Kelly was accurately diagnosed in 2005. This was after many misdiagnoses. Kelly was faced with some learning challenges while she was attending college and this is what started the process that much later led to her diagnosis.

What were the first steps you took after her diagnosis?
Education, for her and our family on what this disease was, how it would affect her and what kind of treatment was out there. First steps and every step is hard emotionally and physically but all we can do is take one step at a time and educate ourselves as much as we possibly can throughout this journey.

How did you learn about NNPDF?
We as a family found the foundation when Kelly was diagnosed. It was a resource of educational materials and a place to not feel so along in this rare diagnosis.

What caused you to get involved with NNPDF initially and how has being an NNPDF member benefited your family?
I initially, and to this day, am involved with the NNPDF because I think there is a bigger “to do” with this disease. It’s not only raising money for research for a cure but its awareness and love and support for those that are going through this. We also have a larger purpose of making others aware of this disease so they don’t spend as long finding the proper diagnosis. Educating the public and providing resources for those that are fighting this disease are benefits that our family received but also what we want to pass onto others. We have to show our community the unbiased support each family deserves during this journey and be there for everyone..

What changes have you seen in the Niemann-Pick environment over the past 5 years?
The environment over the past few years has changed dramatically from my perspective. More people are opening up and being a voice for those that are fighting. The community has come together in a manner of support. It’s not a race to who will find the cure, it’s a collaboration of support, research, and resources for families. It is meant to be support and we are meant to love each other through the struggles of that we all face.

What are your hopes for the future for yourself and for the Niemann-Pick community?
My hope is that the community continues on this trajectory of positive support and that we as a community learn to have empathy for every families’ journey. Everyone is fighting this disease in their own way and having mutual respect for one and other is key to being the safety net of overall support.

NNPDF Community Mobile App

The NNPDF Community section of the app keeps you connected to NNPDF friends and families, and up-to-date on our latest news, updates, and programs throughout the year. The NNPDF Community Mobile App is available through the App Store and on Google Play.

Join the Community Game!

Check out the new COMMUNITY GAME and play along to win a prize! Follow the directions below to get started. Game ends November 31st!

Family Journeys Blog

Welcome to our new Family Journeys Blog! Follow 4 NNPDF families from across the country as their share monthly updates to brings some light and positivity to our community! Our blogger families share personal, uplifting, hopeful stories to show what it means to be living with Niemann-Pick disease and the brighter sides within our community. Check out the blog!

ASMD Updates

Sanofi Genzyme recognized Niemann-Pick Awareness Month with a special, global event focused on ASMD for internal colleagues on October 15. Sandy Cowie (President, INPDA) and Clara Fortune (US patient) shared their stories and educated over 800 Sanofi Genzyme team members from around the world about their experience with ASMD, signs, symptoms, and the challenges of living with such a disease so rare that you rarely meet someone else with your diagnosis.

Justin Hopkin and Amy Pender also partnered with Sanofi Genzyme to celebrate this month. Their family stories were shared in an online article at Sanofi Genzyme’s “Our Stories” section.

Evren’s story “Living Beyond My Rare Disease” is live on The Mighty! Sanofi Genzyme sponsored this article as part of our efforts to recognize the ASMD community as part of National Niemann-Pick disease Awareness Month. The story, the first dedicated post in The Mighty’s new ASMD specific community, shares Evren’s perspective on life, and his personal mantra – “go for it!”

You can read Evren’s story here. The Mighty is a digital health community created to empower and connect people facing health challenges and disabilities. They have over 2 million registered users and are adding a new one every 20 seconds. You, too, can join The Mighty to contribute your own story, join communities of interest to you, and find support.

Navigating Together: Support for all phases of Niemann-Pick disease

NNPDF is continuously working to meet the needs of our community. An area of need that we hope to help support are those surrounding loss (bereavement) and loss related to the Niemann Pick Disease Diagnosis. NNPDF Family Services is offering a new direct services program to provide a confidential space for families to process the complexities related to the realities of loss on multiple levels.

Our program will include small group sessions for bereavement and loss (via Zoom online platform) led by licensed professional trained in grief counseling. It will be free of charge for NNPDF community members and will require a 6 or 8-session commitment.

Navigating Together sessions will be held for ASMD and NPC Families. Sessions and times will be determined as we receive applications and participate availability. Sessions may include- late Onset NPC, Legacy Families, Newly Diagnosed Families.

If you would like to apply to participate in one of the Navigating Together Sessions, please complete the application here.

If you have any questions or would like more information about Navigating Together, please contact Laurie Turner, Family Services Manager at [email protected] or 603-413-8707.

INPDR Update

As October is Niemann-Pick Awareness Month, we’ve been running a campaign across our social media channels to celebrate our achievements, which of course are your achievements! We have focused on how much the Registry has grown, not only in the volume of data but also in our role as a ground-breaking, patient disease registry.

We have also shared some of our outreach work, collaboration and how we are amplifying the patient and family voice – aspects of our work that we are most proud of. If you’re part of the registry, not only are you part of something special but also something that has the power to effect real, positive change. We will keep pushing for progress for the Niemann-Pick disease community.

Sharing data as part of the Clinician Reported Database and/or Patient Reported Database will make a difference to the future because it offers researchers, clinicians, scientists and patient groups access to a greater quantity of data, plus higher quality and a natural history that is so hard to capture in the traditional model of patient registry.

We continue to work in the background to further develop our governance and ensure we continue to move forward with clear direction and purpose. This month, Jim Green, Chair of our Board of Trustees, has been showcasing the work of the INPDR at the Orphan Drug and Rare Disease Global Congress event.

One thing we have talked a lot about is recruitment of a Clinical Research Associate. We hope to be able to share some very exciting news about this with you next month so please watch this space!

You can sign up to our newsletter, due to launch in the New Year using this link: Subscription list or visit the website: inpdr.org/contact-us/.

Remember, if you have any questions about the INPDR, please get in touch – we are always happy to help.

Clinical Trial Updates

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

Update from Cyclo Therapeutics: Cyclo Therapeutics announces its Phase 3 pivotal program can begin enrollment of Trappsol® Cyclo™ for treatment of Niemann-Pick disease Type C. CLICK HERE for complete announcement.

Update from IntraBio: IntraBio reportsfurther detail positive data from IB1001 Multinational Clinical Trial for the treatment of Niemann-Pick disease Type C. CLICK HERE for complete latest news.

Update from Sanofi Genzyme: Olipudase alfa demonstrated significant improvement in lung function and spleen volume in patients with ASMD. CLICK HERE for complete announcement.

Community News Updates

Mallinckrodt Pharmaceuticals: We have received the following letter from Mallinckrodt. CLICK HERE to read.

Emergency Hardship Program

The NNPDF Emergency Hardship Program offers help to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. This assistance program provides relief to members facing a situation that threatens their immediate health and safety, or that causes a terrible hardship. It is intended to provide short term financial assistance in a crisis situation and is not intended to address long term financial challenges.

If you have questions about this program, please contact Laurie Turner, Family Services Manager at 603-413-8707 or [email protected]. Applications will be reviewed by the NNPDF Emergency Hardship Program Committee consisting of 2 Board members and 3 members-at-large.

To be eligible for funding, NPD individuals and families must reside in the US and must be enrolled as a member of the NNPDF for a minimum of 6 months prior to requests*. Funding is available for up to $1000 per calendar year per eligible member. Families with multiple children with NPD are eligible to apply for each affected individual. The NNPDF Board of Directors and Emergency Hardship Program Committee members work to keep the fund fiscally sound, by being the last resort to be used, limiting regular, recurring use by any one recipient, and encouraging donations.

Fundraising & Awareness Opportunities

Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick disease.

Thanks $4 Giving is an annual November fundraiser sponsored by Chase the Cure. To participate, your family sends out donation request postcards (provided by Chase the Cure), or emails to family and friends. Proceeds sent to Chase the Cure benefit the NNPDF, Parseghian Foundation, and other research organizations. Contact Debbie Kaflowitz by Friday, October 30th for detailed participation information.

Facebook Fundraisers

THANK YOU to those of you who have already hosted a Facebook Fundraiser! Are you interested in hosting? It is a great opportunity to raise awareness and funds for the NNPDF. If you are hosting a Facebook fundraiser please email the NNPDF Central Office at [email protected] to let us know.

Stay Connected With Us

A quick reminder that if you are not receiving our NNPDF monthly newsletter via email or have recently changed your address or email, please click here to join us or to update your information.

Supporting one another. Supporting our community.

September 2020

Newsletters

September is Newborn Screening Awareness Month

In recognition of Newborn Screening Awareness Month we are sharing the Firefly Fund’s September Firefly Chat, which is sharing a recent discussion from the recent World Orphan Drug Congress from August, 2020. You can click here to listen. The panel discussion features speakers Pam Andrews, Executive Director of Firefly Fund ; Pat Furlong, with Parent Project Muscular Dystrophy; Emily Fields of Bluebird Bio; Dean Suhr, of the MLD Foundation; and Dr. Melissa Wasserstein, from Montefiore Medical Center. The panelists were moderated by Allison May Rosen of 3D Communications. Happy Newborn Screening Awareness Month!

October is Niemann-Pick Awareness Month

October is Niemann-Pick Awareness Month! Support One Another and Support Your Community by raising awareness and educating others about Niemann-Pick disease in your community.

In the month of October, GET INVOLVED BY:

Sharing the NNPDF Awareness Video (Coming soon!)
Using our Niemann-Pick Awareness Month Facebook profile frame:

1. Click the camera on your Facebook profile picture.
2. Select the “Add Frame” option.
3. Type NNPDF in the “Choose a Frame” search window.
4. Select the “NNPDF Niemann-Pick Awareness Month” frame.

Sharing our Niemann-Pick Quick Facts on your social networks
Supporting NNPDF important advocacy, family services, and research programs through donations

Supporting One Another. Supporting Our Community.

Community News Updates

National Institutes of Health: Miglustat improves swallowing in children and adolescents with Niemann-Pick type C1 disease. NIH observational study suggests that the drug may decrease risk of pneumonia and death in this population. Click here for complete article.

Edenbridge Pharmaceuticals announces the launch of its miglustat 100mg capsules. Click here for complete announcement.

Clinical Trial Updates

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

Updates from Cyclo Therapeutics:

Cyclo Therapeutics to present at 2020 Annual Conference for NPC Patients, Families, and Health Professionals in the United Kingdom.
Cyclo Therapeutics Inc. Announces Additional Efficacy Data from its Ongoing Phase I/II Trial using Trappsol® Cyclo™ Intravenously to Treat Patients with Niemann-Pick disease Type C1 (NPC1).
Cyclo Therapeutics Closes $2.8 Million Private Placement led by Novit LP with $1.0 Million.

CLICK HERE for complete information on above latest news.

Update from IntraBio: IntraBio reports positive data from IB1001 Multinational Clinical Trial for the treatment of Niemann-Pick disease Type C. CLICK HERE for complete latest news.

Update from Mallinckrodt Pharmaceuticals: Mallinckrodt Update to the NPC Community on Adrabetadex: Dr. Steve Romano, Mallinckrodt’s Executive Vice President and Chief Scientific Officer, has prepared the following video for the NPC community. CLICK HERE for complete latest news.

Update from Orphazyme: Orphazyme announces U.S. FDA acceptance and priority of new drug application for arimoclomol for Niemann-Pick disease type C. CLICK HERE for complete latest news.

Becky McGuire, NNPDF Vice Chair

We are pleased to announce Becky McGuire as NNPDF Board Chair. Becky’s cousin, Kelly Thompson, was diagnosed in 2005 with NPC1. She has been an advocate for Kelly, learning as much as she can about the disease while helping her family through a very harsh reality of this awful disease.

Becky shares: “I am looking forward to continuing the transparent work of the board and supporting the foundation and community in its communications and marketing efforts. NNPDF has made incredible progress over the past few years and I am eager to help the foundation in any capacity. From fundraising efforts, awareness and communications, we are all in this journey together and know that it is an honor for me to serve our community.”

Congratulations Becky! We look forward to your support in working with the NNPDF team!

Research Fellowships

Congratulations to our 2020-2021 NNPDF Research Fellowship Award recipients!

Gita Naseri, PhD
Edward H. Schuchman ASMD Research Fellowship Recipient

Project Title: “In celluluo characterization of small molecule activators of acid sphingomyelinase”
Sponsoring Institution: Humboldt University of Berlin (Germany)

Steven Erwood
Peter G. Pentchev NPC Research Fellowship Recipient

Project Title: “Generation of humanized mouse models for Niemann Pick disease Type C”
Sponsoring Institution: The Hospital for Sick Children, Toronto (Canada)

Did you know that since 1993 NNPDF has funded 52 grants and 18 fellowships totaling over $4,000,000? NNPDF’s contributions to Niemann-Pick research have contributed to the identification of disease-causing genes, insights into the pathogenesis of NPC1 & NPC2, support of the NPC cat model at a critical juncture, and development of an assay for newborn screening. Many former grantees and fellows have remained active contributors in the Niemann-Pick disease space.

We are proud to announce that NNPDF is once again funding important research fellowships! The Peter G. Penchev Niemann-Pick Type C Research Fellowship and the Edward H. Schuchman ASMD Research Fellowship are 1-year awards intended for early-stage researchers. These awards support young scientists in pursuit of independent hypotheses and encourage scholarly development about Niemann-Pick disease.

Presentations on the fellowship research will take place at the NNPDF Conference in July 2021.

NNPDF Community Mobile App

Have you downloaded the NNPDF Community app? The NNPDF Community section of the app keeps you connected to NNPDF friends and families, and up-to-date on our latest news, updates, and programs throughout the year. Download to your smartphone or tablet!

The NNPDF Community Mobile App is available through the App Store and on Google Play. After the app is installed, enter your email address and create your profile.

NNPDF In Action

Justin Hopkin Wears a Lot of Hats and Makes Them All Fit to Help Serve Others | NNPDF Board Chair was recently featured in Uplifting Athletes, a national nonprofit organization aligning college football with rare diseases. Justin, you are in inspiration to many and we are honored to have you serving our community. Click here to read article.

NNPDF Executive Director, Joslyn Crowe’s recent article was featured in Rare Disease Report on HCP Live. Read “Getting a Treatment Is Not the End of the Road in Rare Diseases” here.

We’re proud to share NNPDF Executive Director, Joslyn Crowe’s, podcast episode on Global Genes RARECast where she speaks about how NNPDF is preparing the patient community for the availability of the first therapies for niemann-pick disease, the issues people will need to consider, and how families may think differently about their futures. Listen here.

Homers for Heroes

Congratulations to Kelly Ann Thompson (NPC) who was recently recognized as a Homers for Heroes, “Hero of the Day”! Kelly has volunteered for numerous trials and tests in hope of helping the doctors and scientists find a cure for NPC. She is 41 years old now and has battled this disease for more than half her life with no complaints or “why me”. Kelly lives in a senior center as she requires 24-hour attention.

Homers for Heroes states “Kelly, and others who suffer from difficult diseases, but continue the fight every day, are our heroes! Kelly, we are so sorry for what you are going through and thank you for working so hard to help find a cure. You are our hero!”

The Homers for Heroes organization was created by New York Mets first baseman Pete Alonso and fiancé Haley Walsh to recognize the outstanding work of our heroes and inspire others to be a hero in others’ lives. Learn more at homersforheroes.org.

ASMDFacts.com

Sanofi Genzyme recently announced the launch of ASMDFacts.com, a web resource dedicated to Acid Sphingomyelinase Deficiency (ASMD), also known as Niemann-Pick disease types A, A/B, and B.

This website includes helpful resources for both diagnosed and undiagnosed patients, as well as their caregivers. Visit ASMDfacts.com and register to stay up to date on information about ASMD.

Navigating Together: Support for all phases of Niemann-Pick disease

NNPDF is continuously working to meet the needs of our community. An area of need that we hope to help support are those surrounding loss (bereavement) and loss related to the Niemann Pick Disease Diagnosis. NNPDF Family Services is offering a new direct services program to provide a confidential space for families to process the complexities related to the realities of loss on multiple levels.

Our program will include small group sessions for bereavement and loss (via Zoom online platform) led by licensed professional trained in grief counseling. It will be free of charge for NNPDF community members and will require an 6 or 8-session commitment. Sessions will be held weekly, bimonthly, or monthly.

If you would like to learn more about Navigating Together, please contact Laurie Turner, Family Services Manager at [email protected] or 603-413-8707.

NNPDF Challenges of Access Survey

Thank you to all who participated in the NNPDF’s Challenges of Access Survey. The data collected will assess challenges you have experienced in accessing care, coverage for medications, services, and devices, and will be a valuable tool for us in advocating for Niemann-Pick families to ensure coverage for FDA-approved treatments. The data is being analyzed now and we will share the results in early 2021.

Shared Journeys: Unaffected Siblings Group

Interview with Christopher Sousa

by Miranda Feinberg, NNPDF Intern

Meet Christopher Sousa, age 19. Christopher’s brother, Connor, is 17 and was diagnosed with Niemann-Pick type C in late 2011.

Can you tell us a little bit about yourself and your sibling?
I am Christopher Sousa, I’m nineteen… Connor is seventeen. So, he wasn’t diagnosed until December of 2011, he was eight and I was ten. And there were clues, like when he was four and he had liver problems, we thought it was Biliary Atresia, and when he was seven weeks old he had surgery on his liver.

Do you remember being told when Connor was diagnosed or learning about the diagnosis?
Yes, I do. I don’t think I was really told much since I was ten, so I was just pretty much told ‘he has this thing, and he’s probably not going to live as long as you or other people.’ And that was pretty much it.

And before the diagnosis, did you notice anything or any symptoms on your own, or did you find out mostly through your parents?
When Connor was in pre-school my dad thought there was something wrong, and my mom just said he was being paranoid. But then in kindergarten I think they both noticed something was wrong, because I remember when he was in kindergarten there were a couple days where he had to wear an EKG. Of course, cataplexy was super obvious, but there’s nothing that seems necessarily wrong with that, it was just like ‘oh, he fell over because he was laughing.’

Is there anything you wish you had learned or were told when you first learned the diagnosis?
It’s kind of related, but I do wish I had been tested to see whether or not I’m a carrier at the same time that he was tested. Just to know, because that’s still something that bothers me now since I haven’t been tested.

How does Niemann-Pick affect your daily life, for you personally versus your family as a unit?
I don’t know, it sort of becomes a fact of life. I just don’t have anything to compare it to, other than I guess my friends. But everything, when you compare it, isn’t going to be the same.

Does Niemann-Pick affect your daily routine in any way?
I remember feeling disconnected from other people my age kind of, when I found out, because suddenly there was a lot more responsibility. You were now spending parts of your day taking care of your brother instead of going out, to the park, having fun, and hanging out after school.

How do you explain what Niemann-Pick disease is to your friends?
It’s not really something that comes up often. I just tell them he has a disease, he was born with it, and it only gets worse. He used to not be as bad as he is now, he used to be like us until he was about eight or nine. So that’s kind of what I tell people.

In general, do you think you get enough information about Connor’s health or about Niemann-Pick in general?
I think so, especially now that we’re part of NNPDF, I think if we weren’t there would just be a lot less information. Also, it’s just so good having other people around who understand.

Do you find that most of your information about Niemann-Pick is given to or shared with you, or do you ever seek out information on your own?
I think it’s definitely a mix of the two, seeking and receiving. I get a little bit from my mom, and a little bit from NNPDF emails, so I go in and read the links. But I’ve also looked into it more in the past, especially in high school, on projects dealing with biotech.

What advice would you give to other young people in your situation when they first learn of their sibling’s diagnosis?
Definitely, there’s a lot of times where it’s really easy to be angry or upset, and you just have to laugh, just be like ‘how stupid is this?’ When I was younger I was really angry about it all the time, and I never really took the moments as like ‘oh, he made a mess, that’s funny’ versus ‘he made a mess, now I have to clean it up.’

Is there anything related to your brother’s illness that you personally are in charge of handling or feel most responsible for?
One of the things that I do most days is a breathing treatment that he does now. It takes about an hour, he does it twice a day, and I’m usually there doing it. As they get older they have trouble swallowing, and they get fluid build-up in their lungs, so it’s to prevent that.

Are there other things you and your brother share, any activities you like to do together?
When we were younger we used to watch movies and listen to music together all the time… now not as much. His favorite song, we would both just yell it, was “We Built This City” [by Starship] and he definitely, definitely loves watching The Muppets.

For more information on the Unaffected Siblings Group contact Family Services Manager, Laurie Turner at [email protected].

In the Spotlight

April Clemenza

ASMD Patient

Tell us a bit about yourself, such as where do you live and what do you enjoy doing?
My name is April Clemenza. I was born in Southern California on March 23rd, 1983. I am the oldest of four. As far as we know I am the only one in our family to have Niemann-Pick. We moved to Texas when I was little. Currently, I am 37 and live in Cibolo, Texas, a small suburb of San Antonio. I am married to my best friend. Chris and I will have been married 14 years on December 4th, 2020. We have a 5-year-old son named Nicholas. He is our world. My husband is in the Army and we have moved several times over the years but are finally back home. Which means that we are near family. I love being able to spend time together. Matter of fact, it is my favorite thing to do. Growing up, my family was always there for me. Today the only thing that has changed is now my husband and son are there too. They are my biggest support system.

When did you receive your diagnosis? What led you to diagnosis?
I do not remember the day that I got my diagnosis because I was only two. I have been told the story many times though. Originally my parents were given a false diagnosis of Leukemia. Then at age two, I became sick and was admitted to the hospital with Mono. It was at that time the doctors realized how my spleen reacted and decided to do further testing. My parents finally had their answer, Niemann-Pick B, now known as ASMD. After the diagnosis I was followed closely by several teams of doctors. Mostly by a Neurologist and Hematologist who diagnosed me. My neurologist stated that he saw the Babinski reflex and referred me to the National Institute of Health who at the time were working with Type C patients. That program eventually lost funding and ended though.

What were the first steps your parents took after diagnosis?
For many years I had normal check-ups to make sure I was on track. Sure, I had little hick-ups along the way but who doesn’t. I went to school like everyone else. I played with all my friends. I did sports like softball, tennis and swim team. I love swimming. I was in band. I loved and still love art. I graduated high school on time in 2001. I lived a pretty normal life except missing a day here or there to stomach aches.

In the summer of 97, I was away at camp when my appendix ruptured. I spent a little over a week in the hospital. In October of 98 I hit another hick-up. I had developed a rash of petechiae on the backs of my legs, my hands and ankles. We found out my platelets were at 3,000. The doctors ran a lot of tests and came up with Immune Thrombocytopenia Purpura or ITP for short. The doctors were having a hard time getting my platelets to climb to a safe level. They decided it best to prep me for a splenectomy. I remember it clearly. I had received all my shots to prepare my body to not have a spleen. My Dad had gone home for a bit to shower and change. My Mom stayed with me. The surgeons had just come in to discuss everything with us when my Dad came running in and told them “get out! She’s not having the surgery”. See, my Dad had received word from Doctor McGovern at Mt. Sanai. At the time she was head of the clinical research team working with Niemann-Pick patients. She had told him not to let the surgeons remove my spleen unless it was a life and death situation. She explained how important the spleen was to Niemann-Pick patients.

Not long after that I made my first trip to NYC. I was so excited to be there. I remember meeting my friend Leslie. She was the first person with Niemann-Pick, other than me, that I had ever met. She is no longer part of this world, but I will always carry her in my heart. She is like many I have met and love that have been lost to this horrible disease. She made me realize I was not alone in this fight. We have each other.

How did you learn about NNPDF?
Doctor McGovern introduced me to the NNPDF while I was in NYC. In doing so she gave me a connection to an irreplaceable family. I attended my first medical conference in 99. I do not know where I would be without the courage, strength and patience I have learned through the families in the NNPDF. I have made valuable connections to doctors, researchers, other patients, and I was even part of the phase 1a trial for Olipudase Alfa, enzyme replacement therapy. Every year we look forward to seeing everyone at the annual NNPDF conference and learning new information. The NNPDF plays a huge role in bringing our families together and providing us with resources to help guide us to a better future. Being part of a family is being part of something bigger than just yourself. That is what the NNPDF is to me.

What impact has ASMD had on your life?
It has been a long road and these last few years have been my hardest. I have had a continual flair up of ITP and was also diagnosed with Multiple Sclerosis. I am learning new ways to overcome just as I did when I was little. I am looking forward to the future. With the trials for Olipudase Alpha nearing an end there is new hope. A day where I can finally have strength to do day to day tasks without being so worn out. A day where I can take a deep breath and truly breath in. A day where I can keep up with my little man. A day where we can all feel 100%. I know my parents and husband have been waiting for that day too. I know it is close.

How has being an NNPDF member benefitted your family?
The role that the NNPDF has played not only in my life, but all of ours, is huge. They make it possible for us to have the connections to each other, not only here in the states, but all around the world. They have brought us together to support one another and share with each other whether it be grief or happiness. If anyone knows what I have gone through it is all of you, the NNPDF family. Thank you for always being there for my family and me. Stay Strong and stay positive. That day is coming.

Family Journeys Blog

Welcome to our new Family Journeys Blog! Follow 4 NNPDF families from across the country as their share monthly updates to brings some light and positivity to our community! Our blogger families share personal, uplifting, hopeful stories to show what it means to be living with Niemann-Pick disease and the brighter sides within our community. Check out the blog!

INPDR Update

This Summer, despite such globally challenging times, has been a season of growth for the INPDR and we thank our US-based supporters for their continued belief in the power of patient data. As we move into Fall, the next few months set to be equally as busy for the team.

As you may be aware, we began the recruitment process for a Clinical Research Associate (CRA) to expedite data entry and support clinical centres in the US with participation in the INPDR. We were delighted to receive over 150 applications and that have now been short-listed – we hope to introduce our new CRA very soon as we get closer to appointing the right candidate. We’re really excited about the boost this project will make to recruitment to the INPDR and, in turn research and progress for the Niemann-Pick disease community.

The Registry Management Team have also been working hard to develop aspects of our governance, which will consolidate our work and improve communication with the Niemann-Pick disease community and our wide range of collaborators. Every piece of patient data is another step along the road to progress – the more patients and their families that take part, the greater the outcomes are likely to be. The data in the INPDR belongs to patients in every sense of the word – our hope is that families and advocacy groups can make as much use of the data as researchers. Every research output helps us to learn and understand Niemann-Pick disease community and a true patient and family perspective is vital to this.

You can sign up to our newsletter, due to launch in the New Year using this link: Subscription list or visit the website: inpdr.org/contact-us. Remember, if you have any questions about the INPDR, please get in touch – we are always happy to help.

Emergency Hardship Program

The NNPDF Emergency Hardship Program offers help to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. This assistance program provides relief to members facing a situation that threatens their immediate health and safety, or that causes a terrible hardship. It is intended to provide short term financial assistance in a crisis situation and is not intended to address long term financial challenges.

If you have questions about this program, please contact Laurie Turner, Family Services Manager at 603-413-8707 or [email protected]. Applications will be reviewed by the NNPDF Emergency Hardship Program Committee consisting of 2 Board members and 3 members-at-large.

To be eligible for funding, NPD individuals and families must reside in the US and must be enrolled as a member of the NNPDF for a minimum of 6 months prior to requests*. Funding is available for up to $1000 per calendar year per eligible member. Families with multiple children with NPD are eligible to apply for each affected individual. The NNPDF Board of Directors and Emergency Hardship Program Committee members work to keep the fund fiscally sound, by being the last resort to be used, limiting regular, recurring use by any one recipient, and encouraging donations.

Fundraising & Awareness Opportunities

Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick disease. Click here to view current and past fundraising and awareness events.

Facebook Fundraisers

THANK YOU to those of you who have already hosted a Facebook Fundraiser! Are you interested in hosting? It is a great opportunity to raise awareness and funds for the NNPDF. If you are hosting a Facebook fundraiser please email the NNPDF Central Office at [email protected] to let us know.

Save the Date!

NNPDF – INPDA Global Family Support & Medical Conference

MARK YOUR CALENDARS! The 2021 NNPDF – INPDA Global Family Support & Medical Conference will be held July 29 – August 2, 2021 in Orlando, Florida at the Wyndham Grand Orlando Resort Bonnet Creek. Registration and hotel information to follow.

Thursday, July 29:
NNPDF Family Advisory Working Groups
NNPDF Conference Opening
NNPDF Welcome Dinner Event

Friday, July 30:
NNPDF Community Conference Sessions
INPDA Welcome Dinner Event

Saturday, July 31:
NNPDF & INPDA Global Community Conference Session
NNPDF & INPDA Gala Dinner

Sunday, August 1:
INPDA Conference Sessions
INPDA evening event

Monday, August 2:
INPDA Community Conference Sessions

Upcoming Events

Check out our Upcoming Events page.

Stay Connected With Us

A quick reminder that if you are not receiving our NNPDF monthly newsletter via email or have recently changed your address or email, please click here to join us or to update your information.

Supporting one another. Supporting our community.

August 2020

Newsletters

Message from the Executive Director

Dear Friends,

As summer comes to an end many of our families are starting a new school year and adapting to distance learning, hybrid schedules, or home schooling that COVID19 has brought us, others in our community are struggling with challenges from COVID related to job loss, financial stress, or emotional stress, and some in our community enter the fall celebrating milestones and special occasions while others are grieving the loss of their loved ones. It is a time of change for us all. Our new Family Journeys blog and Unaffected Siblings interview series feature stories of several of the families in our community and give insight into real experiences of families and individual’s Niemann-Pick experiences.

The coming months of autumn bring two significant markers in our space. September is Newborn Screening Awareness month and October is Niemann-Pick disease Awareness month. Be on the lookout for special events and news throughout the coming months on ways we can increase awareness of the urgency of early diagnosis and treatment for Niemann-Pick disease.

For now, there are 3 important initiatives I want to highlight and ask you to share:

1. NNPDF’s Challenges of Access study: The NNPDF wants to understand the challenges you may experience pertaining to accessing care and challenges you have experienced in coverage for medications, services, and devices. The information from this study will be essential as we advocate for Niemann-Pick families to ensure coverage for health care today and access to FDA-approved treatment in the near future.

Sign up by September 10th, 2020 to participate. A $100 honorarium is provided for your time.

Click here to learn more.
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2. NPC Newborn Screening Research Study: NPC community foundations in the US and Canada are partnering with RDMD to create a research database that will power multiple NPC research studies and we need YOUR help to get the first important sibling study underway. which will focus on the question of whether early diagnosis and intervention for NPC result in better health outcomes and quality of life for patients. Results from this study may be used to seek a nomination for NPC to be added to newborn screening lists across the country, including the federal Recommended Uniform Screening Panel (RUSP).

Sign up by Tuesday, September 15th, 2020 to participate in this important program.

Click here to learn more.
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3. Emergency Hardship Program: The NNPDF Emergency Hardship Program offers help to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. This assistance program provides relief to members facing a situation that threatens their immediate health and safety, or that causes a terrible hardship.

To learn more, visit: nnpdf.org/family-services/ehp

As always, the NNPDF team is here for you to support your needs or answer your questions.

Fondly,

Joslyn Crowe, MSW, MA
NNPDF Executive Director

NNPDF Health Insurance Survey

As an organization committed to supporting patients and families with Niemann-Pick disease, we are currently conducting an important research project and need your help to collect information from the NPD community – this study is especially important as several clinical programs in the Niemann-Pick community are coming closer to submit to the FDA for approval.

The NNPDF wants to understand the challenges you may experience pertaining to accessing care and challenges you have experienced in coverage for medications, services, and devices. The information from this study will be a valuable tool for us as we advocate for Niemann-Pick families to ensure coverage for health care today and access to FDA-approved treatment in the near future.

Our research team felt that 90 participants for this study will provide accurate data and power. We have had a great response from the community to date but still need additional participants to reach that goal. The study will end on September 10th, so sign up today and help us reach our goal!

What does the survey involve?

It’s easy! Your involvement consists of filling out a Survey/RSVP and a 30-minute telephone interview. A $100 honorarium will be paid for your time. If you are not a member of NNPDF, you will need to provide a document that shows proof of disease (a school note, copy of chart note, or another document)

How can you participate?

To participate in the survey “Understanding Health Insurance Literacy and Challenges in Accessing Health Services in Niemann-Pick disease Through the Eyes of Patients and Families” follow these steps:

Go to https://t.ly/pyt5 for eligibility requirements and to participate
Check the box that says “Check if you have no code”
Complete the Survey/RSVP
Once you have completed the survey and RSVP, someone from the Engage staff will contact you and confirm the date and time of your telephone interview.

Learn more here.

DEADLINE IS SEPTEMBER 10th!

Question? Contact Joslyn Crowe, Executive Director.

Supporting One Another. Supporting Our Community.

Newborn Screening

Call to Action: NNPDF, APRMF, NPCanada and Firefly Fund Seek Your Participation in a first-of-its-kind Newborn Screening Research Study – Please sign up to participate HERE by Tuesday September 15th, 2020.

NPC community foundations in the US and Canada are partnering with RDMD to create a research database that will power multiple NPC research studies and we need YOUR help to get the first important sibling study underway. This first research project with RDMD, referred to as the sibling study, will focus on the question of whether early diagnosis and intervention for NPC result in better health outcomes and quality of life for patients. Results from this study may be used to seek a nomination for NPC to be added to newborn screening lists across the country, including the federal Recommended Uniform Screening Panel (RUSP).

We need NPC caregivers in the US and Canada that are willing to sign-on, sign-up, register and consent to research for this important study. It will take you less than ten minutes and all data shared with researchers is de-identified, or anonymized. No identifying information is shared.

Act Now: Signing up to participate by Tuesday September 15, 2020, is the first important step. The sign-up process is EASY and fast. One parent can sign-up multiple children under his/her account. Go to: rdmd.com/NPC

Important Notes:

Presently, the research can only include patients living in the US and Canada.
Caregivers must consent to research, complete the HIPAA waiver and list at least one facility where the patient has received care.
Patients own their data and parents will have access to their child/children’s records in a secure portal.
There is NO cost to participate

Questions? Contact Joslyn Crowe, NNPDF Executive Director

NNPDF In Action

Congratulations to Evren Ayik who will receive Sanofi Genzyme’s TORCH Award on August 27th. The event will be held on Facebook Live – to join Sanofi Genzyme for the 2020 virtual TORCH Awards on August 27th from 7 – 8pm EST click here.

Evren motivates and inspires us all! This moving celebration will honor rare disease advocates who work tirelessly to transform outreach and create hope for the rare disease community throughout the United States. First established in 2017, the TORCH Awards program was created to recognize families and supporters in the rare disease community. Evren, thank you for your advocacy on behalf of the rare disease community. To watch Evren share his Niemann-Pick story click here.

NNPDF Board Member, Meghann Ferguson, along with her son Liam (NPC), were recently interviewed by CBS-affiliate television channel WDMV. They shared the importance of more awareness of NPC and the urgent need for approved treatments. For complete story click here.

During the Sanofi Genzyme Patient Advocacy Leadership Summit, NNPDF Executive Director Joslyn Crowe shared her insights on “Developing Your Board & Growing Your Organization” and the “Do’s & Don’ts of Going Virtual”.

NNPDF Executive Director, Joslyn Crowe, was featured as an expert speaker at the Inborn Errors of Metabolism Drug Development Summit speaking on “Effective Collaborations Between Industry and Patient Organizations”. She also spoke on the panel discussion “Tackling Ultra-Rare Inborn Errors of Metabolism: Addressing a Huge Unmet Medical Need” and as a workshop leader on “Patient Access & Recruitment for Rare & Ultra-Rare Metabolic Diseases”.

NNPDF Community Mobile App

The NNPDF Community app is now live! Use the Community section of the app to keep you connected to NNPDF friends & families and to stay up to date on our latest news – Download it today to your smartphone or tablet! Check your app for the latest news, updates and programs.

The NNPDF Community Mobile App is available through the App Store and on Google Play. After the app is installed, enter your email address and create your profile.

Save the Date!

NNPDF – INPDA Global Family Support & Medical Conference

MARK YOUR CALENDARS! The 2021 NNPDF – INPDA Global Family Support & Medical Conference will be held July 29 – August 2, 2021 in Orlando, Florida at the Wyndham Grand Orlando Resort Bonnet Creek. Registration and hotel information to follow.

Family Journeys Blog

Welcome to our new Family Journeys Blog! Follow 4 NNPDF families from across the country as their share monthly updates to brings some light and positivity to our community! Our blogger families share personal, uplifting, hopeful stories to show what it means to be living with Niemann-Pick disease and the brighter sides within our community. Check out the blog!

Coming Soon!

Coming this fall, NNPDF will hold support sessions for living with loss. These 8-week programs will be led a trained professional and will offer a small-group space to share, learn, and heal. The program will be held virtually and will require an 8-week commitment.

Three tracks will be formed:

Legacy families who have lost a loved one
ASMD families
Late onset NPC

INPDR Update

The team from the INPDR hope all our friends and families from the NNPDF and US Niemann-Pick community continue to keep safe and well while the COVID-19 pandemic still impacts our lives, albeit with some easing of restrictions in places.

Back in June, we were very pleased to share the news that the INPDR had been awarded a grant from the Ara Parseghian Medical Research Fund, which we explained would accelerate our work in the US.

As part of this grant project, if you have been following our social media channels you may already be aware, we have started the recruitment process for a Clinical Research Associate (CRA). We have received a really positive response to our advertisement and will be moving onto the next stage of the recruitment process.

The appointment of a CRA will provide invaluable support to clinical centres to boost the quantity of data in the Registry, as well as help to ensure the highest standards of data quality. These two things are important because they help to make sure the data is as valuable as possible for research and progress for the Niemann-Pick disease community.

There has also been a good response to our email regarding account reactivation for those already signed up to the Patient Reported Database (PRD) – thank you to everyone who has followed the instructions to reactivate their account or got in touch with any queries.

Furthermore, we have seen several new PRD accounts being set up – it’s very encouraging to see this kind of support for the work of the INPDR so would also like to say thank you to all the families who have signed up.

Every piece of patient data is another step along the road to progress – the more patients and their families that take part, the greater the outcomes are likely to be.

Finally, we will be launching a quarterly newsletter later in the year for patients and their families, as well as another one for professionals, so the global Niemann- Pick community can keep up to date with our global progress. You can sign up using this link: Subscription list or visit the website: inpdr.org/contact-us for the link.

Remember, if you have any questions about the INPDR, please get in touch – we are always happy to help.

Emergency Hardship Program

The NNPDF Emergency Hardship Program offers help to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. This assistance program provides relief to members facing a situation that threatens their immediate health and safety, or that causes a terrible hardship. It is intended to provide short term financial assistance in a crisis situation and is not intended to address long term financial challenges.

If you have questions about this program, please contact Laurie Turner, Family Services Manager at 603-413-8707 or [email protected]. Applications will be reviewed by the NNPDF Emergency Hardship Program Committee consisting of 2 Board members and 3 members-at-large.

To be eligible for funding, NPD individuals and families must reside in the US and must be enrolled as a member of the NNPDF for a minimum of 6 months prior to requests*. Funding is available for up to $1000 per calendar year per eligible member. Families with multiple children with NPD are eligible to apply for each affected individual. The NNPDF Board of Directors and Emergency Hardship Program Committee members work to keep the fund fiscally sound, by being the last resort to be used, limiting regular, recurring use by any one recipient, and encouraging donations.

Update PALS: Patient Airlift Services

PALS is flying again! The decision to pause their missions due to COVID-19 was a very hard one to make. Now after careful consideration, PALS is beginning to resume select missions again! CLICK HERE to learn more.

Clinical Trial Updates

Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.

Fundraising & Awareness Opportunities

Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick disease. Click here to view current and past fundraising and awareness events.

Facebook Fundraisers

THANK YOU to those of you who have already hosted a Facebook Fundraiser! Are you interested in hosting? It is a great opportunity to raise awareness and funds for the NNPDF. If you are hosting a Facebook fundraiser please email the NNPDF Central Office at [email protected] to let us know.

Upcoming Events

Check out our Upcoming Events page.

Stay Connected With Us

A quick reminder that if you are not receiving our NNPDF monthly newsletter via email or have recently changed your address or email, please click here to join us or to update your information.

Category: Newsletters

Newsletters

Message from the Executive Director

NNPDF Cora Sterling Endurance Award Nominations

Conference Information & registration nnpdfconf.org

Newborn Screening Update

In the Spotlight

Dr. Caroline Hastings, MD

Cyclo Therapeutics Welcomes Lori McKenna Gorski, Global Head of Patient Advocacy

Membership Update

Clinical Trial Update

Community News Updates

ASMD Accelerate Study

Comprehensive Care Centers

Emergency Hardship Program

*Those with new diagnoses are eligible to apply if diagnosis was within 6 months of request.

Patient AirLift Services

Fundraising & Awareness Opportunities

Have you recently hosted an NNPDF fundraiser?

Supporting one another. Supporting our community.

Newsletters

Message from the Vice Chair

FDA Listening Session on Niemann-Pick disease Summary Report

NNPDF-INPDA Family Support & Medical Virtual Conference

NNPDF Cora Sterling Endurance Award Nominations

Order Your NNPDF Gear TODAY!

ASMD Accelerate Study

Membership Update

Newborn Screening Update

Comprehensive Care Centers

Coffee & Catching Up

Extraordinary

A Book for Children With Rare Disease

Emergency Hardship Program

Patient AirLift Services

Clinical Trial Updates

Illustrate Your Imagination

Supporting one another. Supporting our community.

Newsletters

Message from the Board Chair

Comprehensive Care Centers

ASMD Accelerate Study

5th Annual Sanofi Genzyme TORCH Awards

Membership Update

NNPDF-INPDA Family Support & Medical Virtual Conference

Newborn Screening Update

Community Connections

In the Spotlight

The Moore Family

INPDR Update

Pfrieger’s Digest

Patient AirLift Services

Emergency Hardship Program

Clinical Trial Update

Community News Update

Illustrate Your Imagination

Supporting one another. Supporting our community.

Newsletters

Message from the Executive Director

Rare Disease Day

NNPDF Rare Disease Day Participation

Rare Disease Day Facebook Profile

I Care About Rare

Membership Update

NNPDF Family Support Medical Conference Update

NNPDF In Action

WORLDSymposium 2021

Navigating Together: Support for all phases of Niemann-Pick disease

Volunteers Needed

Coffee & Catching Up

ASMD Update

INPDR Update

Emergency Hardship Program

*Those with new diagnoses are eligible to apply if diagnosis was within 6 months of request.

Clinical Trial Updates

Illustrate Your Imagination

Stay Connected With Us

Supporting one another. Supporting our community.

Newsletters

Message from the Executive Director

Grandmother of Garrett Hopkin, ASMD
Mother of Justin Hopkin, NNPDF Board Chair