September 2024 Newsletter

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