Summer 2024 Newsletter

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