Newsletters
A Message from the Board Chair | Family Support & Medical Conference Recap | Community Update Webinar | Upcoming Family Events | Surveys, Studies & Market Research | Milestones | Clinical Trial Updates | Community News Updates | Submit Your Photos! | Family Assistance & Support Program | Fundraising | Comprehensive Care Centers | The Assistance Fund | NNPDF Membership
A Message from our Board Chair
Dear Friends,
Just over a month has passed since we gathered in person at our annual Family Conference and once again, I find myself missing our incredible NNPDF community. This year has brought its share of transitions and challenges, but your feedback after the conference has been deeply encouraging. It reminds us why we do what we do: to build connections, strengthen support, and foster relationships that help so many of us navigate everyday life with Niemann-Pick Disease.
As many of you know, our Executive Director stepped down just a few short weeks before the conference. While we are grateful for the contributions she made during her time with us, we understand and respect that this was not an easy decision. In the wake of her departure, our dedicated Board of Directors have been working diligently to move forward with intention and care. We are taking this time to thoughtfully evaluate the evolving needs of our community and to ensure that our next Executive Director brings not only the right experience, but also a heart for our mission and families.
Earlier this year, we also experienced another major transition as our beloved Laurie Turner announced her departure from NNPDF to pursue new aspirations as well as spend time with her family as they grow and achieve all that they are meant to be. Laurie’s impact on our community is immeasurable, and while we miss her presence dearly, we are grateful for the support she continues to offer during this transition. Her legacy of compassion and advocacy remains deeply embedded in the work we do every day.
Despite these changes, our commitment to serving you remains unwavering. The Foundation is strong and steady, thanks to the tireless efforts of our Board and staff. We continue to meet families wherever they are in their journey with Niemann-Pick Disease and strive to be a source of guidance, support, and hope.
The Family Support & Medical Conference recordings are now available! Whether you were able to join us in person or not, we hope these sessions offer valuable insights and strengthen the sense of connection that makes this community so special. Looking ahead, we are excited to launch new tools and resources to help you better understand and navigate this disease.
With October Awareness Month on the horizon, we have a full calendar of engaging content planned – from social media profile frames and community chats to impactful awareness campaigns. There will be many ways to get involved and help amplify our shared mission.
Thank you for your continued trust, resilience, and the love you bring to this community. Together, we are moving forward with purpose, with strength, and always with heart.
Warmly,
Liz Heinze, RN
NNPDF Board Chair
NNPDF Family Support & Medical Conference Recap
Thank you for being part of the 2025 NNPDF Family Support & Medical Conference! It was an inspiring weekend filled with learning, connection, and support among Niemann-Pick families, researchers, and healthcare professionals.
We’re incredibly grateful and extend a sincere THANK YOU to our volunteers, sponsors, and community partners for your dedication in making this wonderful event possible for our Niemann-Pick families and community members! It was great to see such strong support and encouragement of one another being shared.
The conference recordings are now available! If you have any questions or comments you’d like to share with us, please contact us at [email protected]. We look forward to seeing you again in Orlando, Florida in 2026!
Community Update Webinar
Join us for Community Update Webinar featuring:
Mandos Health® by Beren Therapeutics
September 8, 2024 at 8:00 pm ET
This event is exclusively for NNPDF community families living in the U.S. and Canada.
Preregistration is required and will be subject to approval.
Upcoming Family Events
We hope your family will join us for for a day to gather, learn, connect, and share with others in the Niemann-Pick community! Preregistration is required for all attendees and lunch will be provided.
Family Events are a special time for everyone to come together, so NNPDF will not have an Activity Zone at these events.
Registration and further details will be available soon – please keep an eye on your inbox!
- CHICAGO, ILLINOIS
September 27, 2025 | 10:00 am – 4:00 pm CT
Lurie Children’s Hospital, Chicago, IL
- RICHMOND, VIRGINIA
November 8, 2025 | 10:00 am – 4:00 pm ET
Location to be announced.
Surveys, Studies & Market Research
Surveys, studies, and market research play a critical role in deepening our understanding of the needs and experiences of individuals and families affected by Niemann-Pick disease. Your participation contributes essential data that informs scientific research, guides the development of treatments, enhances support services, and strengthens advocacy efforts across the community.
Learn more about the following surveys and ongoing studies actively accepting participants.
Understanding the management and unmet needs among individuals diagnosed with Niemann-Pick disease Type C in the US
This is a blinded market research study to understand current NPC patient management, treatment expectations, outcome measurement, and decisions around stopping or adding treatments. This is a 60 minute telephone interview where you will need access to a computer. Participants will be compensated for their time. Learn more about this study.
NPC Brain Imaging Research Study for NPC
Dr. Jaymin Upadhyay and his team at Boston Children’s Hospital are leading a research study to better understand NPC through advanced brain imaging and non-invasive assessments. The study includes questionnaires, cognitive and motor tasks, a blood sample, and non-invasive brain and muscle assessments. Visits take place over two days at Boston Children’s or McLean Hospital, with home visit options and travel support available. Participants will be compensated for their time. Learn more about this study.
Milestones
The NNPDF loves to showcase the special moments, memories, and meaningful steps you’ve been a part of along the way. If you have a special milestone to share with our Niemann-Pick community, send a photo along with the details to [email protected], and we’ll publish it in future communications!
Kelly
Kelly and Aaron celebrated Kelly’s 46th birthday in Bora Bora! Happy (belated) birthday Kelly!!
Emma
Emma attended a Music Festival in the Pacific Northwest with 300 other students. She had a blast! What a fun experience, Emma!
Cole
Cole graduated high school with honors on May 23rd! Congratulations Cole!
Victoria
Victoria celebrated her completion of 7th grade! It was a year of firsts and adjustments but the school team was amazing! Way to go Victoria!
Connor
Connor lettered in orchestra (violin) and in each of his three adaptive sports seasons. Congrats Connor! Go Mustangs!
Marian
Marian gave a graceful performance at the ballet recital. Beautifully done Marian!
Liam
Liam achieved the rank of Weblos in the Cub Scouts and earned his half red/ half black belt in Martial Arts. In addition, Liam’s matched baseball team (Marymount Saints) won their second conference championship! Well done Liam!
Arnold Family
The Arnold Family had several milestones this past year: Stella performed in her first dance recital! Roman made some great improvements in communication and physical strength! Jillian had her first children’s book published! Well done Arnold family!
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 Azafaros:
Azafaros is pleased to share the dosing of the first patient in its pivotal Phase 3 NAVIGATE program. The two global studies will evaluate the safety and efficacy of the company’s lead asset, nizubaglustat, in individuals living with Niemann-Pick disease Type C (NPC) and GM1/GM2 gangliosidoses. This marks a significant milestone in Azafaros’ mission to deliver new treatment options for patients affected by these neurodegenerative disorders. Read the complete announcement.
Community News Updates
Update from IntraBio
IntraBio is pleased to share that the European Medicines Agency (EMA) Committee for Medicinal Products for Human Use (CHMP) has issued a positive opinion recommending approval of AQNEURSA® (levacetylleucine) for the treatment of Niemann-Pick disease type C (NPC). Read the complete announcement.
Update from Zevra Therapeutics
Zevra Therapeutics is pleased to announce the filing of their Marketing Authorization Application (MAA) with the European Medicines Agency (EMA) for arimoclomol. This marks a major milestone in the company’s journey toward making MIPLYFFA foundational therapy available to patients with NPC across Europe. Read the complete announcement.
Be Part of the Story: Submit Your Photos!
We’d love to feature the incredible strength and spirit of our community by including your photos in our communications and promotions throughout the year! Whether it’s a family photo or a picture of your Niemann-Pick warrior, your photo helps tell our story. By sharing them, you’ll help us spread awareness, build support, and highlight the power of our amazing community. Please send your favorite photos today to [email protected]!
Thank you for supporting our NNPDF community. We truly appreciate and THANK each and every one of you for all you do.
Family Assistance & Support Program
The NNPDF Family Assistance & Support Program (FASP) provides relief to NNPDF U.S. member families that may be facing a financial obstacle that requires short-term financial assistance. Funding includes but is not limited to, specialized medical equipment and goods, utility bills, adaptive home repairs, home and car repairs, car payments, rent and mortgage payments, and bereavement expenses. Learn more about the NNPDF Family Assistance & Support Program.
If you have any questions about this program please reach out to us at [email protected] or 877-287-3672.
Fundraising
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.
THANK YOU to Ashley Abare, Shawnae Sillanpaa, April Van Dyke, and Suzanne O’Leary who recently held a fundraiser to help support NNPDF’s mission!
If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters! Want to host your own fundraiser? Facebook Fundraisers are an easy option! Visit facebook.com/fund/NNPDF to get started!
Comprehensive Care Centers
NNPDF provides 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 [email protected].
The Assistance Fund
Struggling with out-of-pocket expenses due to acid sphingomyelinase deficiency (ASMD)? The Assistance Fund is an independent charitable patient assistance organization helping patients and families by providing financial assistance for the cost of treatment and other health-related services. Through its Acid Sphingomyelinase Deficiency Financial Assistance Program, eligible individuals can receive assistance for all FDA-approved treatment for ASMD. Learn more.
NNPDF Membership
Enrolling, confirming, or updating your membership will ensure we have accurate information for you and your family. This will help us to continue to provide you with important notifications and updates from the NNPDF.
Click here to update or enroll today!
For assistance contact [email protected] or call 877-287-3672
Our 2025 conference will be held at the beautiful Embassy Suites by Hilton Charlotte/Concord Golf Resort & Spa in Concord, North Carolina. The NNPDF group rate will be available until June 11th, 2025. NNPDF Group Rate is $179 ($203.61 including taxes) per night. The NNPDF hotel group rate is available three days before and three days after the conference, dependent on hotel availability.
Courageous Parents Network invites you to join their upcoming virtual workshop: 
Hi everyone,
Do you know an inspiring young person who’s making a difference in raising Niemann-Pick awareness? Nominate them for the NNPDF Cora Sterling Endurance Award! This special award is presented annually at the NNPDF Family Support & Medical Conference to a remarkable individual under age 25 who shines in raising awareness of Niemann-Pick disease in the community. Don’t miss the chance to celebrate their efforts!
Volunteers are essential in the progress of Niemann-Pick Disease awareness and your NNPDF organization!
We’re proud to congratulate Justin Hopkin on his new role as INPDR’s first-ever Chief Scientific Officer! Justin has long been a dedicated advocate for our Niemann-Pick families, and this exciting new chapter is a well-deserved recognition of his tireless commitment to advancing care, research, and community support.
Courageous Parents Network invites you to join their upcoming virtual workshop: 
Volunteers play a vital role in supporting our Niemann-Pick community by raising awareness and helping our family support organization thrive. How can you contribute to NNPDF? We are reaching out to our community to see how YOU can help! We would like to know if you’re interested in offering your skills and time to assist NNPDF. All forms of support are greatly appreciated, currently we are looking for individuals who may be interested in the following:
The International Niemann-Pick Disease Registry serves as an essential resource designed to assist researchers, healthcare professionals, and everyone impacted by Niemann-Pick diseases. Each individual voice and story contributes to the power of this initiative and is particularly important as there is a real need for disease-specific information to support diagnosis, improve clinical care, and advance research.
The NNPDF is seeking an experienced and passionate leader to serve as its next Executive Director and guide the community through this new post-approval landscape of commercially available treatments. This is a unique opportunity to lead a small, capable, and dedicated team that is making a meaningful difference for individuals and families affected by Niemann-Pick disease. See the 
On Tuesday, December 3rd, the National Niemann-Pick Disease Foundation will take part in #GivingTuesday, a day recognized across the nation for its spirit of giving. Your contribution can make a significant impact on families affected by Niemann-Pick Disease by enhancing the essential program services that NNPDF provides to our community. Please 
As we wrap up 
Thank you to all who participated in Niemann-Pick Awareness Month! With your help in sharing our posts, hosting fundraisers, and advocating on behalf of our Niemann-Pick community we were able to spread awareness of Niemann-Pick disease far and wide. Our efforts will carry on as we continue to make a difference for families at all stages of the Niemann-Pick journey and help us deliver hope!
Thank you to all those that joined us for our Family Events in Chicago, Illinois and Fort Lee, New Jersey! Both events were a fantastic time to connect and share with others in the Niemann-Pick community. These events offered the opportunity to learn about NNPDF programs and have the chance to connect with resources, local healthcare providers, and industry professionals. 
The Reagan-Udall Foundation for the FDA, in collaboration with FDA’s Rare Disease Innovation Hub, hosted a public meeting on October 16, 2024. NNPDF was fortunate to have members of the NNPDF Scientific Advisory Board, Board of Directors, and staff be able attend both virtually and in person. The meeting brought together rare disease patient advocates, academic researchers, regulated industry, and other key stakeholders to discuss how the recently announced Rare Disease Innovation Hub can best engage with members of the rare disease community and prioritize its work. 
Join us for our Community Update Series featuring IntraBio on September 30, 2024 at 8:00 pm ET.
Connect with other NNPDF Families during Niemann-Pick Awareness Month! NNPDF will be hosting several opportunities for gathering and connecting virtually beginning October 1st! We look forward to sharing time together, to take a break and reconnect with other Niemann-Pick community members. Be sure to check out our 
On August 2, 2024 I was granted the opportunity to represent the patients and families of our Niemann-Pick type C community in a rare and meaningful way by being selected as the patient advocate for the Genetic Metabolic Diseases Advisory Committee meeting (GeMDAC). As the Patient Advocate for this committee, I was honored to represent the best interests of our patients and their families. I am dedicated to ensuring that the voices of those affected by illness are heard and that their needs are at the forefront of decision-making processes. Importantly, I bring a perspective that is unbiased by any specific drug or pharmaceutical company, as my family is not currently seeking treatment. This impartiality allows me to advocate more effectively for the most appropriate and beneficial treatments available, focusing solely on what is best for our community.
Join Rare & Ready on October 1st at 12:00 pm for an insightful webinar focused on EPICrd (Ensuring Parity through Individualized Care for Rare Disorders) Act, a comprehensive legislative approach to ensuring coverage parity for patients with rare genetic conditions in accessing specialists, medicines, and other necessary items and services within Medicaid.
NNPDF Scientific Advisory Board member Joshua Baker, MD along with Rachel E. Hickey share information on ASMD newborn screening in this recent article published in the Journal of Inherited Metabolic Disease. 
What is the Rare & Ready Coalition? Rare & Ready: A Genetic Coalition are advocates who push for state policies that mitigate Medicaid program hurdles to ensure that patients with rare and genetic conditions get access to the care they need. Whether you are a patient, caregiver, healthcare provider or member of a patient advocacy group, your voice matters. 
