May 2021
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 lori.gorski@cyclodex.com. 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 familyservices@nnpdf.org 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 lturner@nnpdf.org.
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 familyservices@nnpdf.org. 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 familyservices@nnpdf.org.
*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!
