March 2021

March 2021

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

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

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 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!

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 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 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, visit 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 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


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 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

Supporting one another. Supporting our community.

Rare disease patient communities deserve access to data from failed clinical trials

March 2021

By Joslyn Crowe

In recent months, research to develop a treatment for Niemann-Pick disease faced several significant setbacks when important efforts in clinical research failed. For a community that continues to wait for even one approved treatment option, the news has been devastating. As patients and caregivers turn their hope to the few clinical research efforts that are still underway, these events also raise an important question about failed clinical trials. What happens to all that data when the trial ends?

In rare disease communities, data from clinical trials is an especially valuable resource. There are generally very few clinical trials conducted for rare diseases and available data is often very limited. Even in a failed trial, these data can provide important insights for future research – lowering costs and shortening timelines.

In January 2017, a regulation by the Food and Drug Administration Amendments Act (FDAAA) introduced guidelines requiring that data from clinical trials be made available on the website no later than one year after the trial is completed. Despite this regulation, studies have found that many companies do not report their results on the database. The FDA guidance includes a fine of up to $11,000 per day to companies that fail to report data. To date, no fines have been issued.

On January 20th, 2021 Mallinckrodt Pharmaceuticals announced the termination of its clinical development program, clinical trial, and associated extension program for an investigational drug called adrabetadex for the treatment of Niemann-Pick disease type C (NPC). NPC is an ultra-rare, fatal, neurodegenerative disease with no cure or approved treatment. The disease most commonly affects young children and severely impacts the ability to think, walk, talk and eat. The life expectancy for people living with Niemann-Pick disease is only about 20 years. Despite Mallinckrodt’s decision to cancel their program, many families reported seeing improvements in their children who were taking the drug. Now, families are left wondering what will happen to the data from this trial and if it will be available to support future research efforts.

The National Niemann-Pick disease Foundation is taking steps to encourage all companies conducting trials related to Niemann-Pick disease to share their data from failed studies on platforms that are accessible to patients and researchers. One avenue is through the International Niemann-Pick disease Registry (INDPR), owned and managed by the patient community, or another is through the FDA’s Rare Disease Cures Accelerator (RDCA). We also hope that companies will actively support efforts to transition development programs for potential new therapies to other organizations that may be well positioned to continue and advance their research. Above all, we hope that companies will acknowledge how important access to data is to the Niemann-Pick community – and all other rare disease communities – and lead by example in sharing the raw data for further analysis to advance knowledge, understanding, and inform future research from any failed clinical trials instead of it rendered useless.

Supporting one another. Supporting our community.