May 2025 Newsletter

Jill Beirl

July 10-13, 2025

Embassy Suites by Hilton Charlotte/Concord Golf Resort & Spa
Concord, North Carolina

We look forward to seeing you at our 33rd Annual NNPDF Family Support & Medical Conference! Be sure to watch NNPDF communications for important updates. We look forward to seeing you there!

For all conference information visit nnpdf.org/conf.

Conference Registration

Conference Shirt Deadline – Register by June 10th to ensure your complimentary 2025 NNPDF Family Support & Medical Conference shirt will be waiting for you at the conference!

First Time Attendee Discount: Enjoy a 10% discount off your registration! We’re happy to have you join us!

June 28th is the final day for registration so please be sure to complete your registration by this important deadline.

Accommodations

Reserve by June 11th

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.

Special Offer for Conference Attendees

We are excited to share a special offer for Family Support and Medical Conference attendees.

Order your NNPDF gear by June 10th and take advantage of FREE SHIPPING when you pick up your merchandise at the NNPDF Family Support & Medical Conference!

It’s easy!

Select your gear and place your order
In Shipping Method select “PICK UP AT CONFERENCE for FREE”
Grab your gear at the conference!

I Need A Cure for NPD - ASMD - Store Image

Someone I Love Needs a Cure - NPC - Store Image

NNPDF Supports Newborn Screening Committee

NNPDF joins the broader rare disease community in signing on to preserve the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) federal-level committee focused on newborn screening. This committee plays a vital role in the early diagnosis of rare and serious genetic conditions in newborns, and its continued work is essential to the future of this important effort. We’re proud to stand with our partners in support of this initiative.

Read the community letter of support.

NPC Study Opportunity: Help us better understand the impact of living with NPC

Niemann-Pick type C (NPC) impacts the quality of life for both those living with the condition and their families and caregivers. If you have NPC or care for someone with NPC, we invite you to join our research study and share your experiences. Your participation is crucial in helping us better understand NPC and improve support for those affected.

Learn more and find out how to get involved. Your voice matters!

Courageous Parents Network Virtual Workshop

Courageous Parents Network invites you to join their upcoming virtual workshop: Parent Perspectives: Insights into Medical Decision-Making on Wednesday, June 25, 2025 at 12:00 PM ET.

Making decisions about interventions like feeding tubes or tracheostomies is one of the toughest responsibilities caregivers face. In this session, a panel of experienced parents will share what guided their choices, the challenges they faced, and how they worked with their care teams. Gain real-life insight and practical advice to support your own decision-making journey. Moderated by Gabrielle Conecker, a public health advocate with over 20 years of experience.
Register here!

Milestones

Do you have a special milestone to share with our Niemann-Pick Community? Please consider submitting milestone moments and family photos so we can showcase the special moments you have been a part of.

Send a photo along with the details to [email protected] and we’ll publish it in future communications!!

Community News Update

NNPDF shares news and information regarding our community as soon as it is received. Visit our Community News web page for up to date information.

Update from Azafaros: Azafaros announces its completion of an oversubscribed €132M Series B financing enabling accelerated development of its lead product nizubaglustat, scheduled to enter Phase 3 studies for Niemann-Pick disease Type C (NPC) and GM1/GM2 gangliosidoses later this year. Read the complete update.

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.

Please contact [email protected] if you have any questions about this program.

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 Suzanne O’Leary who recently held a Facebook Fundraiser!

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!

ASMD Accelerate

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.

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].

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.

Supporting one another. Supporting our community.

April 2025 Newsletter

Jill Beirl

Message from our Executive Director

Hi everyone,

A month into the role as your Executive Director, I’ve now met with every board member and scientific advisor, as well as our vendors, industry partners, and more. I’ve also begun hosting a series of Community Conversations (with families) and Clinical Conversations (with our doctors and their office staff) in an effort to build out some resources for our families that can support you through insurance and access barriers. As I learn more about what these hurdles and burdens look like, I’m interviewing experts and working on a three prong approach that should encompass casework support, toolkits and materials to get ahead of the problems, and policy advocacy to educate policymakers about improving the laws and regulations that allow these hurdles to exist in the first place.

If you haven’t yet signed up for one of the Community Conversations, please do. Watch for new sessions coming soon! Whether your insurance problems are behind you or you’re dealing with them now, it would help me to learn what worked as I create the resources and tools that might help.

I also can’t wait to meet you at the Family Support & Medical Conference in Concord, NC in July. As the staff pulls together another wonderful conference this year, I want to remind you to register! We have lots of great speakers, including a session on public policy and what is happening in Washington, D.C. Also, last call on signing up for the Family Advisory Working Groups and Conference Scholarships – final deadline is April 20th! Join us and make this year’s family conference a success!

Warm regards,

Saira Sultan, JD
NNPDF Executive Director

July 10-13, 2025

Embassy Suites by Hilton Charlotte/Concord Golf Resort & Spa
Concord, North Carolina

We look forward to seeing you at our 33rd Annual NNPDF Family Support & Medical Conference! Be sure to watch NNPDF communications for important updates. We look forward to seeing you there!

For all conference information visit nnpdf.org/conf.

Family Advisory Working Groups

Final Deadline April 20th

The National Niemann-Pick Disease Foundation, Inc. (NNPDF) will host Family Advisory Working Groups that will take place on on Thursday, July 10, 2025 prior to the start of our Family Support & Medical Conference at the Embassy Suites by Hilton Charlotte/Concord Golf Resort & Spa in Concord, North Carolina.

Family Advisory Working Groups facilitate communication between Niemann-Pick families and the pharmaceutical industry, offering valuable insights into the patient and family experience. These sessions provide industry partners with the opportunity to engage privately with a small group of ASMD or NPC patients and/or immediate family members for a 3-hour discussion. This is an optional event and pre-registration is required.

Family Conference Scholarships

Final Deadline April 20th

Scholarship funding is available to help NNPDF families ease the cost of attending the 2025 NNPDF Family Support and Medical Conference in Concord, North Carolina. Scholarship assistance will provide up to 3 nights hotel (room and tax only at the group rate) and up to 2 adult conference registrations for eligible applicants. Scholarship assistance is limited to immediate NNPDF U.S. family members of an individual with Niemann-Pick Disease.

Conference Registration

Early Bird Registration: Save by May 14th

Discounted Registration Rate:
Register by May 14th to take advantage of discounted registration fees.

Family Registration Discounted Rate:
EARLY BIRD REGISTRATION ONLY – Register 2 adults and 2 children (age 17 and younger) at the early bird registration rate of $500 (adults $175 and children $75). Any additional children in your immediate family will be free of charge.

First Time Attendee Discount:
Enjoy a 10% discount off your registration! We’re happy to have you join us!

Accommodations

Reserve by June 11th

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.

NNPDF Cora Sterling Endurance Award

Application Deadline May 15th

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!

Joele Ruppert & Joseph Colton ASMD Scholarship

Application Deadline May 15th

NNPDF is accepting applications for the Joele Ruppert and Joseph Colton ASMD Scholarship. This scholarship provides one-time funding of $500 to individuals diagnosed with ASMD for studies in post-secondary (high school) degrees, including two-year colleges, four-year colleges, vocational schools, and other post-secondary institutions.

National Volunteer Month

Volunteers are essential in the progress of Niemann-Pick Disease awareness and your NNPDF organization!

During NATIONAL VOLUNTEER MONTH we acknowledge each of you who have generously given your time and energy to keep your NNPDF family support organization moving forward. We truly appreciate and THANK each and every one of you for all you do.

NNPDF Board of Directors volunteer selflessly to serve in these vitally important roles.
Scientific Advisory Board members advocate for your cause.
Family conference leaders and helpers give their time tirelessly and unconditionally.
Friends and family members volunteer to raise funds that contribute to Niemann-Pick disease research and support your family organization programs.
Families give their time in simply supporting one another through the trials and struggles that Niemann-Pick disease brings.

Your community is growing stronger because of you! Thank you!

Supporting One Another. Supporting Our Community.

Celebrating Leadership:

Justin Hopkin Appointed INPDR Chief Scientific Officer

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.

As an INPDR Ambassador, member of the Niemann-Pick community, and now CSO, Justin brings both deep personal insight and scientific leadership to the role. Join us in celebrating this exciting achievement and all that it means for the future of the Niemann-Pick community.

#RAREis Scholarship Application Open

Living with a #RareDisease? Have a dream to pursue your education? Perhaps a $5,000 scholarship would help. The #RAREis Scholarship Fund is now accepting applications for 2025!

The #RAREis Scholarship Fund is available for any rare disease patient who is age 17+ and has a U.S. residency. Applicants must be enrolled in an accredited course(s) for Fall 2025 Semester. Therefore, it is not degree specific!

If financial burden has held you back before, now is the time to pursue those dreams! Learn more.

NPC Study Opportunity: Help us better understand the impact of living with NPC

Niemann-Pick type C (NPC) impacts the quality of life for both those living with the condition and their families and caregivers. If you have NPC or care for someone with NPC, we invite you to join our research study and share your experiences. Your participation is crucial in helping us better understand NPC and improve support for those affected.

Learn more and find out how to get involved. Your voice matters!

Courageous Parents Network Virtual Workshop

Courageous Parents Network invites you to join their upcoming virtual workshop: Hear from the Siblings: Sharing Their Journey with Medical Complexity on Wednesday, April 23rd at 8:00 pm ET.

Do you wonder or worry about the siblings? Come hear from the siblings themselves about how loving and caring for a brother or sister with medical complexity shapes them. Join a panel of siblings to gain insights into the fears and worries that siblings carry, the things that helped them (and those that didn’t), and how loving a brother or sister with medical complexity shapes them.

This session will be moderated by Dr. Wendy Plante, who for over twenty years has worked with siblings of children with illness and disability and their families and has been involved with research and training to address siblings’ needs. Register here!

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.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or [email protected] if you have any questions about this program.

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 those who have recently held Facebook Fundraisers!

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!

NNPDF Store

Did you know our store has some great items to help raise awareness for Niemann-Pick Disease? Awareness shirts are available in 3 designs with ASMD, NPC, or Niemann-Pick Disease options – available in T-Shirt or Hoodies. Personalization for your family is available. Be sure to check out our NNPDF apparel and logo items and send us your photos with your new gear! Allow 2 weeks for delivery. US only.

ASMD Accelerate

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.

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 Laurie Turner at [email protected].

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 Laurie at [email protected] or call 920-542-4038

Supporting one another. Supporting our community.

March 2025 Newsletter

Jill Beirl

Message from our Executive Director

Dear Members of the NNPDF Community,

It is an honor to be joining this community of patients and families, and I look forward to working tirelessly on your behalf. With more than a decade of experience in the rare disease world and over 30 years in health care policy, my goal is to listen and learn from each of you as I work alongside the NNPDF Board to meet and exceed your expectations.

A little about me – after graduating from University of Virginia’s School of Law, I started my career on Capitol Hill in Washington, D.C., working in the House of Representatives and then the U.S. Senate. I then led reimbursement policy for Medtronic, a Minnesota medical device company before leading all U.S. policy, government affairs, and advocacy for an association representing cancer centers. Later, I led similar functions when I opened the Washington D.C. office for Sanofi, and then went on to lead Pfizer’s executive branch relationships, including FDA, CMS, and HHS. I have run my own consulting practice this past decade, where I have represented industry, patient, and provider organizations, successfully changing numerous policies to improve the environment for innovation and access to treatments for patients. I hope to bring this experience to NNPDF in ways that sustain and improve the services you have come to expect from NNPDF.

I live in the Washington, D.C. area – and perhaps, what is most important to know about me, I’ve been happily married for just over 25 years, with two wonderful children: one finishing college in Hoboken, NJ and one finishing graduate school in Australia. I’m also fortunate to live near my mom, also an attorney and my role model for how to have a fulfilling career and family.

I appreciate I have big shoes to fill, and I certainly can’t do this alone. While NNPDF has a wonderful Staff and Board, I look forward to hearing from each of you about your concerns and hopes for this organization and community. In the coming months, I will be reaching out proactively to as many of you as I can – and will find some time in the July Family Support & Medical Conference schedule as well – to learn from you. I also invite you to reach out to me at [email protected]. Let’s share in the commitment I have made to support you and NNPDF’s mission.

Warm regards,

Saira Sultan, JD
NNPDF Executive Director

July 10-13, 2025

Embassy Suites by Hilton Charlotte/Concord Golf Resort & Spa
Concord, North Carolina

We look forward to seeing you at our 33rd Annual NNPDF Family Support & Medical Conference! NNPDF has many exciting opportunities to connect with expert clinicians, researchers, and other Niemann-Pick families who share your journey. Be part of meaningful discussions, engaging family break-out sessions, important advocacy and FDA updates, Family Advisory Working Groups, our heartfelt We Remember Them video tribute, and much more.

Be sure to watch NNPDF communications for important updates. We look forward to seeing you there!

For all conference information visit nnpdf.org/conf.

Conference Registration

Early Bird Registration: Save by May 14th

Discounted Registration Rate:
Register by May 14th to take advantage of discounted registration fees.

Family Registration Discounted Rate:
EARLY BIRD REGISTRATION ONLY – Register 2 adults and 2 children (age 17 and younger) at the early bird registration rate of $500 (adults $175 and children $75). Any additional children in your immediate family will be free of charge.

First Time Attendee Discount:
Enjoy a 10% discount off your registration! We’re happy to have you join us!

Accommodations

Reserve by June 11th

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.

Family Conference Scholarships

Application Deadline April 10th

Scholarship funding is available to help NNPDF families ease the cost of attending the 2025 NNPDF Family Support and Medical Conference in Concord, North Carolina. Scholarship assistance will provide up to 3 nights hotel (room and tax only at the group rate) and up to 2 adult conference registrations for eligible applicants. Scholarship assistance is limited to immediate NNPDF U.S. family members of an individual with Niemann-Pick Disease.

NNPDF Family Advisory Working Groups

Application Deadline April 15th

The National Niemann-Pick Disease Foundation, Inc. (NNPDF) will host Family Advisory Working Groups that will take place on on Thursday, July 10, 2025 prior to the start of our Family Support & Medical Conference at the Embassy Suites by Hilton Charlotte/Concord Golf Resort & Spa in Concord, North Carolina.

Family Advisory Working Groups facilitate communication between Niemann-Pick families and the pharmaceutical industry, offering valuable insights into the patient and family experience. These sessions provide industry partners with the opportunity to engage privately with a small group of ASMD or NPC patients and/or immediate family members for a 3-hour discussion. This is an optional event and pre-registration is required.

NNPDF Cora Sterling Endurance Award

Application Deadline May 15th

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!

Joele Ruppert & Joseph Colton ASMD Scholarship

Application Deadline May 15th

NNPDF is accepting applications for the Joele Ruppert and Joseph Colton ASMD Scholarship. This scholarship provides one-time funding of $500 to individuals diagnosed with ASMD for studies in post-secondary (high school) degrees, including two-year colleges, four-year colleges, vocational schools, and other post-secondary institutions.

Volunteer Opportunities

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:

Board Members
Committees
Focus Groups & Patient Advisory Committees
Advocacy and Outreach
Other specialized skills you may have!

If you are interested in becoming a NNPDF volunteer, please send your resume or a letter of interest and let us know what you are passionate about that may be an asset to the Foundation. Please share your work experience, hobbies, or skills. For example: I like working with numbers, I love to coordinate fundraising events, I work for a company that offers volunteer opportunities etc. Please reply by MARCH 30th to [email protected] and we will follow up with you.

Thank you for supporting our NNPDF community. We truly appreciate and THANK each and every one of you for all you do.

Supporting One Another. Supporting Our Community.

Rare Disease Week on Capitol Hill

NNPDF was proud to have one of our community members attend Rare Disease Week on Capitol Hill in Washington, DC last month. Garland Alvey attended the weeklong event.

Rare Disease Week on Capitol Hill empowers and inspires hundreds of advocates each year. Rare Disease Legislative Advocates (RDLA), a program of the EveryLife Foundation for Rare Diseases, brings together hundreds of rare disease individuals, family members, caregivers, and advocates from across the country to make their voices heard by their Members of Congress. Participants are educated on policy proposals impacting the rare disease community and provide opportunities to advocate for policy changes directly to their Members of Congress.

Thank you to Garland for sharing your voice and advocating on behalf of our entire Niemann-Pick Community. Read Garland’s summary report.

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.

NPC Study Opportunity: Help us better understand the impact of living with NPC

Niemann-Pick type C (NPC) impacts the quality of life for both those living with the condition and their families and caregivers. If you have NPC or care for someone with NPC, we invite you to join our research study and share your experiences. Your participation is crucial in helping us better understand NPC and improve support for those affected.

Learn more and find out how to get involved. Your voice matters!

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.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or [email protected] if you have any questions about this program.

#RAREis Scholarship Application Open

Living with a #RareDisease? Have a dream to pursue your education? Perhaps a $5,000 scholarship would help. The #RAREis Scholarship Fund is now accepting applications for 2025!

The #RAREis Scholarship Fund is available for any rare disease patient who is age 17+ and has a U.S. residency. Applicants must be enrolled in an accredited course(s) for Fall 2025 Semester. Therefore, it is not degree specific!

If financial burden has held you back before, now is the time to pursue those dreams! Learn more.

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 Laurie Turner at [email protected].

NNPDF Store

Did you know our store has some great items to help raise awareness for Niemann-Pick Disease? Awareness shirts are available in 3 designs with ASMD, NPC, or Niemann-Pick Disease options – available in T-Shirt or Hoodies. Personalization for your family is available. Be sure to check out our NNPDF apparel and logo items and send us your photos with your new gear! Allow 2 weeks for delivery. US only.

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 Pattie Hopkins, Lynn Ell, and Jennifer Walker Davis who recently held Facebook Fundraisers!

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!

ASMD Accelerate

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.

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 Laurie at [email protected] or call 920-542-4038

Supporting one another. Supporting our community.

Winter 2025 Newsletter

Jill Beirl

Message from the Family Services Manager

At NNPDF, we understand that living with Niemann-Pick Disease (ASMD and NPC) can present many challenges. Our mission is to help families like yours navigate the complex world of treatments, resources, and supports. We are here to offer guidance and assistance in all stages of Niemann-Pick Disease including but not limited to:

Navigating Prescription and Access Support: If you encounter challenges with securing prescriptions, gaining access to treatments, or face other obstacles, NNPDF can assist you in advocating to resolve any concerns.
Treatment Funding Assistance: We are here to guide you to resources and programs that can offer financial assistance for treatment, supporting you every step of the way.
Specialty Pharmacy: If you have questions about working with a specialty pharmacy, NNPDF will help to ensure your needs are met, and the process is as smooth as possible.
Assistive Devices and Equipment: If you need durable medical equipment or other assistive devices, we can help guide you through the process and help find additional funding options if needed.
Family Assistance and Support Program (FASP): The Family Assistance and Support Program provides relief to US members facing a situation that requires financial funding that otherwise is not available or that causes hardship.
Sharing your story with the NNPDF community: Sharing your story with NNPDF is valuable because by discussing the challenges you’ve faced and more importantly, how you overcame them, you can provide insight that may assist others. What worked for you could be the key to helping another family navigate similar obstacles.

If your family needs support, please reach out. I would love to catch up and explore ways NNPDF can help you in your Niemann-Pick journey. You can reach me at [email protected] or 920-542-4038.

Warm Regards,

Laurie Turner, Family Services Manager
[email protected]

Rare Disease Day is February 28th!

Rare Disease Day is the globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease.

Rare Disease Day promotes raising awareness and generating change for the 300 million people worldwide living with a rare disease such as Niemann-Pick, their families and caregivers. YOU can show your support on Rare Disease Day by raising awareness of Niemann-Pick Disease and what it means to be rare. Learn more and get involved!

NPC Study Opportunity: Help us better understand the impact of living with NPC

Niemann-Pick type C (NPC) impacts the quality of life for both those living with the condition and their families and caregivers. If you have NPC or care for someone with NPC, we invite you to join our research study and share your experiences. Your participation is crucial in helping us better understand NPC and improve support for those affected.

Learn more and find out how to get involved. Survey closes February 28th – your voice matters!

Bringing Holiday Cheer Update

Thirty-nine NNPDF Community member families had help in making their holidays a little brighter. A heartfelt thank you to all those that contribute to help make the holidays a little brighter for NNPD families. We also extend an extra special THANK YOU to our anonymous donor who started the gift giving program five years ago. This special program aims to help ease the burden of holiday stress, while promoting family togetherness and enjoyment, by helping to bring some cheer to our Niemann-Pick families. NNPDF was able to assist with over 350 items for our families. Thank you again for providing much joy to our families.

Pfrieger's Digest

We are pleased to share the latest issue of the Pfrieger’s Digest written by Frank W. Pfrieger, PhD, (Niemann-Pick Selbsthiifegruppe – Germany). Frank provides an overview of the latest advances in Niemann-Pick diseases based on recent scientific publications. Read Frank’s recent comprehensive literature review.

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 Keith Travels, Ashley Reel, Theresia Peterson, and Natasha Hollingsworth who recently held a fundraiser to help support NNPDF’s mission!

If you’ve 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!

Milestones

Do you have a special milestone to share with our Niemann-Pick Community? Please consider submitting milestone moments and family photos so we can showcase the special moments you have been a part of.

Send a photo along with the details to [email protected] and we’ll publish it in future communications!!

NNPDF Store

Did you know our store has some great items to help raise awareness for Niemann-Pick Disease? Awareness shirts are available in 3 designs with ASMD, NPC, or Niemann-Pick Disease options – available in T-Shirt or Hoodies. Personalization for your family is available. Be sure to check out our NNPDF apparel and logo items and send us your photos with your new gear! Allow 2 weeks for delivery. US only.

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 Azafaros:
Azafaros is pleased to share they’ve been granted important regulatory designations and clearance by European authorities for global Phase 3 studies, to be initiated in 2025. Read the press release.

Community News Updates

NNPDF shares news and information regarding our community as soon as it is received. Visit our Community News web page for up to date information.

Update from Mandos:
Mandos Health has shared the following February 2025 update with the NNPDF community. Read the complete update.

Update from IntraBio:
IntraBio Inc. has appointed Marc C. Patterson, MD, FRACP, FAAN, FANA, as its new US Chief Medical Officer. Dr. Patterson, a recognized expert in neurodegenerative and neurodevelopmental diseases, brings decades of clinical and research experience, having previously held leadership roles at the Mayo Clinic and Columbia University. Read the complete announcement.

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.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or [email protected] if you have any questions about this program.

International Niemann-Pick Disease Registry

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.

If you have not yet registered or updated your information with the International Niemann-Pick Disease Registry we encourage you to do so. Visit inpdr.org to learn how you can join.

Surveys, Studies, & Market Research

Be sure to check out our Surveys & Market Research webpage for current survey and study opportunities in the Niemann-Pick disease space. Participating in surveys and studies is important to the advancement of health options for our Niemann-Pick community members. Contact Laurie Turner at [email protected] for any questions.

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. 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

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.

Update or enroll today!

For assistance contact Laurie at [email protected] or call 920-542-4038.

Supporting one another. Supporting our community.

December 2024 Newsletter

Jill Beirl

Message from the Family Services Manager

For over 30 years, the National Niemann-Pick Disease Foundation (NNPDF) has stood beside patients and their families, offering unwavering support through every phase of their Niemann-Pick journey. As the largest support organization for Niemann-Pick disease in the United States, we are proud to have made a meaningful impact on more than 450 families.

This year, the Niemann-Pick community has reached a remarkable milestone. Thanks to the perseverance and collaboration of patients, families, pharmaceutical partners, researchers, clinicians, and regulatory authorities, 2024 marks the approval of multiple therapies by the FDA for ASMD and Niemann-Pick type C, with even more treatments in development and clinical trial. This progress is a testament to the strength and determination of our community.

Throughout the years, NNPDF has remained steadfast in our mission to empower families facing the profound challenges of ASMD and NPC. We’ve been there every step of the way, helping families navigate medical care, overcome financial hardships, and cope with the emotional and physical toll of these disorders.

As we celebrate these achievements, we also reflect on the collective strength and determination of our community. The progress we’ve made is a shared success, and together, we will continue to forge ahead, ensuring no family faces Niemann-Pick disease alone. Thank you for being part of this journey with us.

Laurie Turner, Family Services Manager
[email protected]

We Remember Them

As 2024 comes to a close, we honor the memories of those we’ve lost and the strength of those who carry on. Please join the NNPDF in keeping all Niemann-Pick families in your thoughts during the holidays and throughout the new year.

We are truly grateful for your support.

As 2024 draws to a close, we want to express our deepest gratitude for your incredible support. Thank you for being such a vital part of the Niemann-Pick community. Whether through generous donations, family fundraisers, or social media campaigns, your kindness has made a meaningful difference in our efforts to support patients and families navigating the Niemann-Pick journey.

It is because of supporters like you that we are able to continue providing essential services and making a real impact in the lives of those affected by Niemann-Pick disease. Every contribution matters, and we couldn’t do this vital work without you.

As we reflect on this year, we are inspired by the strength and generosity of our community. During this holiday season, we wish you and your loved ones joy, peace, and happiness. We are grateful for your ongoing commitment, and we are honored to have you by our side as we work toward a brighter future for all Niemann-Pick families.

With heartfelt gratitude,
The Board of Directors & Staff of the National Niemann-Pick Disease Foundation

NNPDF Executive Director Search

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 full job description for more details on this exciting role.

Thank You to Dr. Marc Patterson

After 43 remarkable years, Dr. Marc Patterson is stepping away from clinical practice, leaving behind a profound legacy in the Niemann-Pick community. His groundbreaking research has transformed our understanding of Niemann-Pick disease, uncovering new treatment avenues and improving patient care. Dr. Patterson’s tireless efforts have led to significant advancements in both clinical care and scientific research, benefiting patients today and into the future.

For over 30 years, Dr. Patterson has been a key member of the NNPDF Scientific Advisory Board, shaping research priorities, advising on best practices, and advocating for increased funding for Niemann-Pick research. He has testified in front of Congress to advocate for change in drug development standards and spoke at multiple national and international events with regulators and key decision makers on behalf of the community. He has also been instrumental in developing educational resources for families, strengthening the NNPDF’s mission to improve care and raise awareness of the disease.

An accomplished author, Dr. Patterson has published numerous influential works that have shaped the landscape of Niemann-Pick research. His legacy is far-reaching, setting a high standard for patient care, collaboration, and innovation. His influence will continue to inspire future generations of doctors, researchers, and all whose lives he has touched.

Perhaps most important to this community, Dr. Patterson has defined what it means to be a great physician. Patients and families from around the world have sought him out for his knowledge and expertise in Niemann-Pick Disease. His sense of professionalism, strong work ethic and moral standards have translated into many, many long days and long nights to ensure all his patients receive the best possible care. His professionalism, empathy and compassion have earned our trust and appreciation in a way that will never be replaced.

The NNPDF community extends its deepest gratitude to Dr. Patterson for his unwavering dedication, expertise, and compassion. His contributions have left an indelible mark on our community, and we are deeply thankful for the lasting impact he has made in advancing both the science and care of Niemann-Pick disease. On behalf of all those you’ve helped, thank you for your extraordinary commitment, and we wish you great success in all that lies ahead.

2003 NNPDF Family Conference Patterson 2

Milestones

Do you have a special milestone to share with our Niemann-Pick Community? Please consider submitting milestone moments and family photos so we can showcase the special moments you have been a part of.

Send a photo along with the details to [email protected] and we’ll publish it in future communications!!

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 Jessica Frasier Munson, Laura Fischer, Debbie Moltisanti, and Lenette Ferguson who recently held a fundraiser to help support NNPDF’s mission!

If you’ve 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!

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 Azafaros:
Azafaros is pleased to share an update on PRONTO and Phase 2 RAINBOW study data with nizubaglustat, for patients with Niemann-Pick disease type C (NPC) GM1 and GM2 gangliosidoses. Read the complete update.

International Niemann-Pick Disease Registry

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.

If you have not yet registered or updated your information with the International Niemann-Pick Disease Registry we encourage you to do so. Visit inpdr.org to learn how you can join.

Surveys, Studies, & Market Research

Be sure to check out our Surveys & Market Research webpage for current survey and study opportunities in the Niemann-Pick disease space. Participating in surveys and studies is important to the advancement of health options for our Niemann-Pick community members. Contact Laurie Turner at [email protected] for any questions.

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.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or [email protected] if you have any questions about this program.

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. 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

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.

Update or enroll today!

For assistance contact Laurie at [email protected] or call 920-542-4038.

Supporting one another. Supporting our community.

November 2024 Newsletter

Jill Beirl

A Message to the Community

As we conclude November, a month dedicated to gratitude, we extend our heartfelt thanks to all our NNPDF families and members. Your unwavering dedication to raising awareness and supporting our community is truly remarkable. By working together, we continue to strengthen the network that promotes growth and hope in ASMD and NPC. Let’s celebrate the positive impact we are making together!

As we celebrate this season of gratitude, we also want to highlight the incredible milestones that have touched your families recently. Please consider submitting milestone moments and family photos so we can showcase the special moments you have been a part of, please email family photos and milestones to [email protected].

Be assured that NNPDF is available to support your family during their journey with ASMD and NPC. We can provide objective information on available treatments, help find local resources, and provide access to medical specialists or some days, just be the voice on the other end of the phone. We are here to help you – please let us know how we can best support your family.

Thank you for sharing your family with us,

Liz Heinze, Board Chair
[email protected]

Laurie Turner, Family Services Manager
[email protected]

Now Available: Soaring Together

NNPDF is excited to share Soaring Together, written by Jillian Arnold. This book is inspired by the beautiful and unique journey the Arnold family has been on with their two brave kids, Roman and Stella, who are battling ASMD Type A/B.

Soaring Together: A Butterfly Family’s Story of Discovery, Love, and Resilience follows Roman and Stella, two butterfly siblings eager to explore the world. When they emerge from their chrysalises, they find themselves unable to fly. Disheartened, their parents lovingly reassured them that their differences don’t limit their ability to experience life’s wonders.

Congratulations to Jillian! Thank you for sharing your journey with us and spreading awareness for the rare disease community. Soaring Together is available on Amazon.

Be sure to check out our Family Resources webpage where you’ll find other Books & Publications dedicated to members of our Niemann-Pick community who have expressed themselves in books or other publications.

International Niemann-Pick Disease Registry

Justin Hopkin shares the importance of the International Niemann-Pick Disease Registry in this video. The 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.

If you have not yet registered or updated your information with the International Niemann-Pick Disease Registry we encourage you to do so. Visit inpdr.org to learn how you can join.

Celebrating #GivingTuesday

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 consider a gift on #GivingTuesday.

Supporting One Another. Supporting Our Community.

Milestones

Do you have a special milestone to share with our Niemann-Pick Community? Please consider submitting milestone moments and family photos so we can showcase the special moments you have been a part of.

Send a photo along with the details to [email protected] and we’ll publish it in future communications!!

The Assistance Fund

2025 reenrollment is now open. If you are you currently receiving financial assistance through The Assistance Fund’s ASMD financial assistance program, please be aware of key dates and TAF’s reenrollment process so you are prepared to submit a reenrollment application for 2025 TAF assistance. Find complete details.

NNPDF Store - Order Now for the Holidays!

Now is a great time to get your Niemann-Pick Awareness apparel, NNPDF Logo apparel and NNPDF logo products shipped directly to your door! Order today and support your Niemann-Pick community! Store ships to U.S. residents only.

NIEMANN-PICK AWARENESS APPAREL is available! Raise awareness for ASMD or NPC, and even personalize for your family. Awareness shirts are available in 3 designs with ASMD, NPC, or Niemann-Pick Disease options available. Send us your photos with your new gear!

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 Janet Jacobs and Patricia McClees who recently held a fundraiser to help support NNPDF’s mission!

If you’ve 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!

Surveys, Studies, & Market Research

Be sure to check out our Surveys & Market Research webpage for current survey and study opportunities in the Niemann-Pick disease space. Participating in surveys and studies is important to the advancement of health options for our Niemann-Pick community members. Contact Laurie Turner at [email protected] for any questions.

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.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or [email protected] if you have any questions about this program.

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. 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

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.

Update or enroll today!

For assistance contact Laurie at [email protected] or call 920-542-4038.

Supporting one another. Supporting our community.

October 2024 Newsletter

Jill Beirl

Message from the Family Services Manager

As we wrap up Niemann-Pick Awareness Month, I’m thankful for all the connections I’ve been able to make through our weekly Community Chats, supporting families in accessing treatments, and the joy shared at our Family Events in Fort Lee, New Jersey and Chicago, Illinois.

November and December bring one of my favorite Family Services Programs and I am happy to share the launch of the 5th annual Bringing Holiday Cheer program to spread even more smiles this year! Thank you for allowing me to be a part of your Niemann-Pick journey. Being together helps provide renewed energy and allows us to help one another. I hope to connect with you in the upcoming Community Chats held throughout the winter months.

The NNPDF Executive Director hiring committee is diligently reviewing resumes and will start to interview possible candidates in the coming weeks. We appreciate their time and effort in finding the right candidate for NNPDF. Please remember, our board and staff are available should you need anything:

Liz Heinze, Board Chair: [email protected]
Becky McGuire, Vice Chair: [email protected]
Laurie Turner, Family Services Manager: [email protected]
Jill Beirl, Communications Manager: [email protected]
General questions and inquiries: [email protected]

Be sure to Save the Date for July 10-13, 2025 for the Family Support & Medical Conference in Charlotte, NC. New in 2025 we will be extending the conference to Sunday morning to allow for more time to be together and learn.

A Special Note to our NPC Families: We understand there have been a lot of changes in the landscape for our NPC families with two recently approved treatments. Please know NNPDF is here for you as a trusted resource. We strive to provide accurate and unbiased information, which you can take back to your medical team as you explore treatment options. Please reach out if you have any questions, concerns, or if you have any helpful hints that we can share with other families.

We encourage you to take a moment to enjoy and appreciate the upcoming seasons.

Warm Regards,

NNPDF Family Services Manager

Niemann-Pick Awareness Month

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!

Bringing Holiday Cheer

NNPDF is excited to share the 5th Annual Bringing Holiday Cheer Program, started in 2020 by an anonymous donor who simply wanted to help make the holidays a little brighter for those in need! We are committed to making the holiday season less stressful and more enjoyable for families while promoting family togetherness and enjoyment. NNPDF would like to extend a special thank you to everyone who continues to make the Bringing Holiday Cheer program possible.

NNPDF members residing in the U.S. are eligible to submit an application for funding for the Bringing Holiday Cheer Program. If you have any questions or need application assistance, please contact Laurie Turner, Family Services Manager at [email protected] or call 920-542-4038.

Application deadline is Friday, November 15th

NNPDF Family Events

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. Check out the event photos!

We’re excited about the upcoming events we’ll be hosting in 2025! If you’d like to suggest a location for an NNPDF Family Event near you, please get in touch with Laurie at [email protected].

NNPDF Executive Director Search

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 full job description for more details on this exciting role.

International Niemann-Pick Disease Registry

If you have not yet registered or updated your information with the International Niemann-Pick Disease Registry we encourage you to do so. The 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.

Having an international registry for Niemann-Pick diseases is particularly important as there is a real need for disease-specific information to support diagnosis, improve clinical care, and advance research. Learn more.

NNPDF In Action

Justin Hopkin (NNPDF Scientific Advisory Board) and Kari Lato (NNPDF Board of Directors) attended the 2024 NORD Rare Diseases and Orphan Products Breakthrough Summit. Justin and Kari joined over 900 patient leaders, researchers and scientists, healthcare advocates, pharma and biotech innovators, government agencies, and others to tackle the most pressing issues facing the rare disease community.

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. Click here for more information.

NNPDF Store - Order Now for the Holidays!

Now is a great time to get your Niemann-Pick Awareness apparel, NNPDF Logo apparel and NNPDF logo products shipped directly to your door! Order today and support your Niemann-Pick community! Store ships to U.S. residents only.

NIEMANN-PICK AWARENESS APPAREL is available! Raise awareness for ASMD or NPC, and even personalize for your family. Awareness shirts are available in 3 designs with ASMD, NPC, or Niemann-Pick Disease options available. Send us your photos with your new gear!

The Assistance Fund

If you are you currently receiving financial assistance through The Assistance Fund’s ASMD financial assistance program, please be aware of key dates and TAF’s reenrollment process so you are prepared to submit a reenrollment application for 2025 TAF assistance. Find complete details.

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 Anne OConnor-Smith, Lori Wells, Dawn Stites, and Becky McGuire who recently held a fundraiser to help support NNPDF’s mission!

If you’ve 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!

Milestones

Do you have a special milestone to share with our Niemann-Pick Community? We’d love to include yours! Send a photo along with the details to [email protected] and we’ll publish it in future communications!!

Supporting One Another. Supporting Our Community.

Surveys, Studies, & Market Research

Be sure to check out our Surveys & Market Research webpage for current survey and study opportunities in the Niemann-Pick disease space. Participating in surveys and studies is important to the advancement of health options for our Niemann-Pick community members. Contact Laurie Turner at [email protected] for any questions.

Community News Update

NNPDF shares news and information regarding our community as soon as it is received. Visit our Community News web page for up to date information.

Update from Mandos Health:
Mandos Health has shared the following October 2024 update with the NNPDF community. Read the complete update.

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.

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.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or [email protected] if you have any questions about this program.

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 Laurie Turner at [email protected].

ASMD Accelerate

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 Laurie at [email protected] or call 920-542-4038

Supporting one another. Supporting our community.

September 2024 Newsletter

Jill Beirl

NNPDF Message to the Community

September 2024 will be a month to remember – the month that we can now say we have approved treatment options for Niemann-Pick type C! Our community celebrates the approval of not one, but two treatments approved by the US FDA in the span of four days. NNPDF is thankful for the dedication to innovative research, the tireless efforts of our industry partners and most importantly to you, our families. Learn more about AQNEURSA and MIPLYFFA.

Special thanks to the patients and families who participated in clinical trials and expanded access programs. Additional thanks to those who spoke at the Zevra Advisory Committee meeting and all who submitted written testimony. We would also like to thank NNPDF Board Chair, Liz Heinze for her participation as the patient advocate for the Genetic Metabolic Diseases Advisory Committee (GeMDAC) meeting.

Day-to-day operations at the foundation are smooth and steady. NNPDF has created a hiring committee (comprised of board members) that are working on the search for a new NNPDF Executive Director. Please remember, our board and staff are available should you need anything:

Liz Heinze, Board Chair: [email protected]
Becky McGuire, Vice Chair: [email protected]
Laurie Turner, Family Services Manager: [email protected]
Jill Beirl, Communications Manager: [email protected]
General questions and inquiries: [email protected]

We hope your family will be able to attend one of the upcoming NNPDF Family Events. Family Events were created to help make it easier for families to come together as we recognize traveling to the annual conference is not always possible for a variety of reasons. We are looking forward to hosting more family events in 2025 and would love to hear what cities you think we should go to!

Chicago, IL on 9/28/2025: If you would still like to attend, please email [email protected]
Fort Lee, NJ on 10/26/24: Learn more

Be sure to Save the Date for July 10-13, 2025 for the Family Support & Medical Conference in Charlotte, NC. New in 2025 we will be extending the conference into Sunday morning to allow for more time to be together and learn.

October is Niemann-Pick Awareness Month! Learn how to get involved! Show your support of our Niemann-Pick community by raising awareness and educating others about Niemann-Pick Disease. With your help in spreading awareness, we will make a difference for families at all stages of the Niemann-Pick journey! We would love to see your photos, share your activities, and celebrate milestones! Send them to [email protected].

We hope you take some time to enjoy and appreciate the upcoming changing seasons.

Warm Regards,
NNPDF Board of Directors and Staff

NNPDF Community Update Series

Join us for our Community Update Series featuring IntraBio on September 30, 2024 at 8:00 pm ET.

Preregistration is required at t.ly/NNPDF-Webinar-IntraBio

Community Connection Opportunities

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 calendar of events and register in advance.

NNPDF Family Events

Join us for a day to gather, learn, connect, and share with others in the Niemann-Pick community. These events serve as a platform for Niemann-Pick families to connect with others in their region. They offer educational sessions on Niemann-Pick Diseases, the opportunity to learn about NNPDF programs and support services, and have the chance to connect with resources, local healthcare providers, and industry professionals. Learn more about Family Events!

Message from Liz Heinze

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.

My commitment to this role stems from a deep desire to support and improve the quality of care for our patients. By prioritizing patient-centered perspectives and transparent advocacy, we can work together to enhance treatment options and address the unique challenges faced by those navigating their health journeys. I am dedicated to being a strong voice for our community and to driving positive change in the field of patient care. I look forward to future opportunities, supporting Niemann-Pick families and advocating to help make their journey just a little bit easier.

Kind Regards,
Liz Heinze

October is Niemann-Pick Awareness Month

Show your support of our Niemann-Pick community by raising awareness and educating others about Niemann-Pick Disease. With your help in spreading awareness, we will make a difference for families at all stages of the Niemann-Pick journey!

Use one of our awareness templates to share a photo, name, or message to help promote Niemann-Pick awareness. Download and add our ASMD or NPC Niemann-Pick awareness badges to your social profiles!

Learn more on how to get involved!

NNPDF Gear and Awareness Apparel

Now is a great time to get your Niemann-Pick Awareness apparel, NNPDF Logo apparel and NNPDF logo products shipped directly to your door! Order today and support your Niemann-Pick community! Store ships to U.S. residents only.

NIEMANN-PICK AWARENESS APPAREL is available! Raise awareness for ASMD or NPC, and even personalize for your family. Awareness shirts are available in 3 designs with ASMD, NPC, or Niemann-Pick Disease options available. Send us your photos with your new gear!

NNPDF In Action

Laurie Turner, Family Services Manager recently attended Critical Path Institute’s (C-Path) inaugural Global Impact Conference Charts the Future of Drug Development. Laurie represented NNPDF along with more than 300 industry leaders, regulatory agencies, academic experts, and patient advocacy groups, all dedicated to advancing drug development and regulatory science for rare diseases.

C-Path CEO Klaus Romero, MD, MS, FCP shared opening remarks outlining the importance of the conference and its pivotal role in shaping the future of healthcare through impactful collaboration. The inaugural day, themed ‘Innovative Methods and Approaches,’ set the tone for a series of discussions and workshops dedicated to exploring new frontiers in medical research and drug development.

PHOTO LEFT: Conan Donnelly, INPDR, Sandy Cowie, INPDA, and NNPDF Family Services Manager, Laurie Turner

PHOTO RIGHT: Krista Casazza, Scientific Director, Pediatrics, CPLD, Critical Path Institute and NNPDF Family Services Manager, Laurie Turner

Surveys, Studies, & Market Research

Be sure to check out our Surveys & Market Research webpage for current survey and study opportunities in the Niemann-Pick disease space. Participating in surveys and studies is important to the advancement of health options for our Niemann-Pick community members. Contact Laurie Turner at [email protected] for any questions.

Rare & Ready EPICrd Webinar

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.

Learn more at t.ly/EPICrdINFO
Reserve your spot for this important webinar at bit.ly/EPICrd.

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 IntraBio:
U.S. FDA approves AQNEURSA™ (IB1001) for the Treatment of NPC
IntraBio is pleased to share the U.S. Food and Drug Administration (FDA) has approved AQNEURSA™ for the treatment of neurological manifestations of Niemann-Pick disease type C (NPC) in adults and pediatric patients weighing ≥15 kg. Read IntraBio’s letter to the community and press release, and the FDA press release.

Update from Zevra Therapeutics:
U.S. FDA approves MIPLYFFA™ (arimoclomol) for the Treatment of NPC
Zevra Therapeutics is pleased to share the U.S. Food and Drug Administration (FDA) has approved MIPLYFFA™, for use in combination with miglustat for the treatment of neurological manifestations of Niemann-Pick disease type C (NPC) in adult and pediatric patients 2 years of age and older. MIPLYFFA™ is the first therapy indicated specifically for the treatment of NPC, and is currently the only approved treatment for this disease. Read Zevra’s letter to the community and press release, and the FDA press release.

Community News Update

NNPDF shares news and information regarding our community as soon as it is received. Visit our Community News web page for up to date information.

Update from Mandos Health:
Mandos Health has shared the following September 2024 update with the NNPDF community. Read the complete update.

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 Patricia Lawson, BrekKe Ell, and Krissy Florkiewicz 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!

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.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or [email protected] if you have any questions about this program.

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 Laurie Turner at [email protected].

ASMD Accelerate

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 Laurie at [email protected] or call 920-542-4038

Supporting one another. Supporting our community.

Summer 2024 Newsletter

Jill Beirl

A Final Message from our Executive Director

Dear Friends,

As we near the end of an incredibly busy summer for our ASMD and NPC communities, I write to you to share the news that after a great deal of thought and consideration, I will end my tenure as NNPDF’s Executive Director on August 30th to pursue a growth opportunity. The past six years at NNPDF have been incredibly rewarding to see both the organization and the wider Niemann-Pick communities build and thrive successfully. I end my term confident that I am leaving the Foundation in a better and more sustainable place than when I began.

All programs and day-to-day activities will continue to be run seamlessly by our incredible NNPDF Board and Staff. Our Executive Committee will manage a smooth transition. Key contacts are:

Liz Heinze, Board Chair: [email protected]
Becky McGuire, Vice Chair: [email protected]
Laurie Turner, Family Services Manager: [email protected]
Jill Beirl, Communications Manager: [email protected]
General questions and inquiries: [email protected]

It has been a privilege to be accepted as a part of the Niemann-Pick community. Thank you for sharing your personal stories with me and for your friendship. Thank you for lending your voices when needed and for being wonderful partners in advocacy. I have been fortunate to be part of the important work we have done to raise awareness of Niemann-Pick disease, to generate valuable research into the impact of Niemann-Pick on patients and caregivers, and of course to deliver vital family services throughout the US to help fill the many unmet needs our families face. Together we have brought investigational therapies through the pipeline, including our first-and-only approval for ASMD. We now are at the precipice of approvals for our NPC community, with several other investigational therapies advancing in our pipeline.

It is an exciting time for the Niemann-Pick community, filled with hope. I am confident the Foundation and the entire community will continue to thrive under NNPDF’s excellent leadership. Thank you for your trust in me over the past six years.

With best wishes,

Joslyn Crowe
NNPDF Executive Director

NNPDF Family Support & Medical Conference Recap

Thank you for attending the 2024 NNPDF Family Support & Medical Conference! We hope you found the weekend meaningful and impactful, with new connections made.

We would like to extend a sincere THANK YOU to all of our volunteers, sponsors, and community partners for making our conference a wonderful event for our Niemann-Pick families and community members! It was fantastic to see many of you in support of one another.

Visit nnpdf.org/conferences/#2024fc for recordings and photos that 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 Charlotte, North Carolina in 2025!

NNPDF Community Update Series

Join us for Community Update Series featuring:

Zevra Therapeutics
September 23, 2024 at 8:00 pm ET
Preregistration is required at t.ly/NNPDF-Webinar-Zevra

IntraBio
September 30, 2024 at 8:00 pm ET
Preregistration is required at t.ly/NNPDF-Webinar-IntraBio

NNPDF is happy to introduce our upcoming Family Events!

We hope your family will join us for a day to gather, learn, connect, and share with others in the Niemann-Pick community. These events serve as a platform for Niemann-Pick families to connect with others in their region. They offer educational sessions on Niemann-Pick Diseases, the opportunity to learn about NNPDF programs and support services, and have the chance to connect with resources, local healthcare providers, and industry professionals. Learn more about Family Events!

CHICAGO, ILLINOIS
September 28, 2024 | 10:00 am – 4:00 pm CT
DoubleTree by Hilton Hotel Chicago O’Hare Airport – Rosemont
5460 N River Road, Rosemont, IL 60018
Learn more and register by September 22nd
FORT LEE, NEW JERSEY
October 26, 2024 | 10:00 am – 4:00 pm ET
DoubleTree by Hilton Hotel Fort Lee – George Washington Bridge
2117 Route 4 East, Fort Lee, NJ 07024
Learn more and register by October 18th

NNPDF 2024 Board of Directors

We are honored to present your 2024 NNPDF Board of Directors. NNPDF Board members generously volunteer their time and energy to keep your family support organization moving forward and are essential in the progress of Niemann-Pick Disease awareness. Thank you to each of you for serving in these vitally important roles.

FRONT ROW: Kari Lato, Meghann Ferguson, Kelly Lee, and Taylor Sabky (Secretary). BACK ROW: Mike Smith (Treasurer), Paul Merrigan, Becky McGuire (Vice Chair), Gail Koujaian, Dawn Stites, Liz Heinze (Chair), Anthony Leoni, Travis Obermeyer, and Garland Alvey. Absent from photo: Cara Gilmore and Mary Francis Harmon.

NNPDF Welcomes New Board Members

We are proud to welcome the following incoming Board Members to the NNPDF team: Garland Alvey, Kelly Lee, and Dawn Stites. Learn more about them.

Garland Alvey
Father of Abby, NPC

Kelly Lee
Mother of Gracie, NPC

Dawn Stites
Mother of Cole, NPC

NNPDF Scientific Advisory Board

Thank you to our Scientific Advisory Board members who so generously offer their time and expertise to the NNPDF on a volunteer basis. NNPDF’s Scientific Advisory Board plays a vital role that focuses on advising NNPDF leadership with the research, clinical, and regulatory leadership necessary to fulfill its role in the community. Learn more.

FRONT ROW: Sherman Garver, PhD, Walla Al-Hertani, MD, MS, Caroline Hastings, MD, and Justin Hopkin, MD. BACK ROW: Melissa Wasserstein, MD, Marc Patterson, MD, Joshua Baker, DO, Steve Sturley, PhD, Andy Lieberman, MD, PhD, Denny Porter, MD, PhD, and Ed Schuchman, PhD.

Newborn screening for acid sphingomyelinase deficiency in Illinois: A single center's experience

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. Read the article.

NPC Brain Imaging Research Study

NNPDF has been asked to share information regarding a Niemann-Pick Type C Brain Imaging Research Study at Boston Children’s Hospital under the research group of the Division of Genetics and Genomics, Department of Medicine, & Department of Anesthesiology, Critical Care and Pain Management. Learn more.

Rare & Ready: A Genetic Coalition

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. Learn more.

Milestones

If you have a special Milestone you’d like to share with your Niemann-Pick community please send us a photo and the details at [email protected].

Liam and his brothers joined the Scouts this year. As they joined the program late, they had only 6 weeks to earn 6 mandatory and 2 elective badges to make rank. Liam’s hard work and determination quickly earned a total of 12 badges in a short period of time, successfully advancing him from Bear to Weeblo rank. Way to go Liam! His brothers also earned their badges and moved from Tigers to Bears.

Congratulations Cole!! Cole was thrilled to have the opportunity to throw out the ceremonial first pitch at the Tampa Bay Ray’s game, to attend sleep away camp, and to hang out with his sister at the conference. Way to go Cole!!

Caleb started Xenpozyme in April of 2023. Since then, he has been much healthier, has grown a little taller, gained about 25-30 pounds, and has a better outlook on where the rest of his life will go!!! He NO LONGER has an expiration date looming over his head like the Doctor’s said!!! Fantastic news Caleb!!

Clara has been working so hard in Physical and Occupational Therapy. She was able to attend a “Summer Intensive” two-week session with them and worked so hard! Great job Clara!

Connor lettered 3 times in adaptive sports this school year and was named Minnesota State High School League All-Conference honorable mention for both soccer and softball. Go Mustangs! He was also awarded most improved as voted by his peers for orchestra. Congratulations Connor!

Anne competed in the Havana, Cuba Olympic Triathlon in February and finished in 2nd place! Way to go Anne!

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 announce positive topline data from its RAINBOW study, a Phase 2 clinical trial investigating nizubaglustat in patients with a genetic diagnosis of Niemann-Pick disease type C (NPC) or GM2 gangliosidosis.
Read complete announcement.

Update from Zevra Therapeutics:
Zevra Therapeutics is pleased to share a letter to the community following Friday’s positive vote, which also includes a link to the press release. The announcement shares that the U.S. Food and Drug Administration (FDA) Genetic Metabolic Diseases Advisory Committee (GeMDAC) voted favorably that the data support that arimoclomol is effective in the treatment of patients with Niemann-Pick disease type C (NPC). Zevra will continue to work closely with the FDA and respond to any outstanding questions they may have in the coming weeks. The assigned Prescription Drug User Fee Act (PDUFA) action date for arimoclomol is September 21, 2024.
Read the complete press release.
Read the letter to the community.

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, Elaine Gipson, Caryn Carper, Joshua Swanson 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!

INPDR, NNPDF, and NP Canada Patient Reported Database Webinar Recording

The recording is available for the INPDR, NNPDF, and NP Canada webinar “Empowering North American NPD Families: Understanding the INPDR Patient Reported Database”. Watch the recording.

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.

Please contact Laurie Turner, Family Services Manager at 920-542-4038 or [email protected] if you have any questions about this program.

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 Laurie Turner at [email protected].

ASMD Accelerate

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 Laurie at [email protected] or call 920-542-4038

Author: Jill Beirl

Jill Beirl

July 10-13, 2025

For all conference information visit nnpdf.org/conf.

Conference Registration

Accommodations

Reserve by June 11th

Special Offer for Conference Attendees

NNPDF Supports Newborn Screening Committee

NPC Study Opportunity: Help us better understand the impact of living with NPC

Courageous Parents Network Virtual Workshop

Milestones

Community News Update

Be Part of the Story: Submit Your Photos!

Family Assistance & Support Program

Fundraising

ASMD Accelerate

The Assistance Fund

Comprehensive Care Centers

NNPDF Membership

Supporting one another. Supporting our community.

Jill Beirl

Message from our Executive Director

July 10-13, 2025

For all conference information visit nnpdf.org/conf.

Family Advisory Working Groups

Final Deadline April 20th

Family Conference Scholarships

Final Deadline April 20th

Conference Registration

Early Bird Registration: Save by May 14th

Accommodations

Reserve by June 11th

NNPDF Cora Sterling Endurance Award

Application Deadline May 15th

Joele Ruppert & Joseph Colton ASMD Scholarship

Application Deadline May 15th

National Volunteer Month

Celebrating Leadership:

Justin Hopkin Appointed INPDR Chief Scientific Officer

#RAREis Scholarship Application Open

NPC Study Opportunity: Help us better understand the impact of living with NPC

Courageous Parents Network Virtual Workshop

Be Part of the Story: Submit Your Photos!

Family Assistance & Support Program

Fundraising

NNPDF Store

ASMD Accelerate

The Assistance Fund

Comprehensive Care Centers

NNPDF Membership

Supporting one another. Supporting our community.

Jill Beirl

Message from our Executive Director

July 10-13, 2025

For all conference information visit nnpdf.org/conf.

Conference Registration

Early Bird Registration: Save by May 14th

Accommodations

Reserve by June 11th

Family Conference Scholarships

Application Deadline April 10th

NNPDF Family Advisory Working Groups

Application Deadline April 15th

NNPDF Cora Sterling Endurance Award

Application Deadline May 15th

Joele Ruppert & Joseph Colton ASMD Scholarship

Application Deadline May 15th

Volunteer Opportunities

Rare Disease Week on Capitol Hill

Be Part of the Story: Submit Your Photos!

NPC Study Opportunity: Help us better understand the impact of living with NPC

Family Assistance & Support Program

#RAREis Scholarship Application Open

Comprehensive Care Centers

NNPDF Store

Fundraising

ASMD Accelerate

Clinical Trial Updates

The Assistance Fund