December 2023 Newsletter
Message from our Executive Director | We Remember Them | Celebrating Milestones in 2023 | Fundraising | NNPDF Action Alert! Sign on letter for the FDA in support of Arimoclomol | Family Assistance & Support Program | NNPDF Store | ASMD Accelerate | Save the Date | Clinical Trial Updates | The Assistance Fund | Comprehensive Care Centers | NNPDF Membership
Message from our Executive Director
Dear NNPDF Community,
As we approach the end of another year, we welcome this opportunity to reflect on the many important advances we have made and to reaffirm our commitment to developing programs and advocating for the best support possible for all people impacted by Niemann-Pick disease.
Throughout 2023, NNPDF has steadfastly supported our community and ensured that all members have access to the resources they need. Through our Navigating Together and Community Connections series, we increased our focus on the importance of making connections and providing a safe space for different members of our community to share their experiences and seek support from others. On social media, we put a special emphasis on the many important members of our community including siblings and caregivers who make such a positive difference in the lives of people living with Niemann-Pick. We continued our work with leaders in government, industry, and advocacy to help raise broader awareness of the impact of Niemann-Pick disease and we expanded our research efforts to better understand issues related to insurance, disease burden, and challenges in access to care that can lead to new avenues of support for our community. And above all else, we continued to fight for access to new treatments and resources that can improve the lives of all people affected by Niemann-Pick disease. Heading into 2024, we will continue to expand our efforts and build on this great momentum.
The Niemann-Pick community is the epitome of the strength and determination of a small but mighty community. Diagnosed individuals, caregivers, families, healthcare leaders, researchers, donors, and industry partners all play an important role and we are grateful to all of you who have supported our efforts at NNPDF. As we look back, we feel confident that the positivity and perseverance of our community will help us reach even higher levels of change in the year to come. Despite the challenges we have faced, we continue to show the world that we are united, and that we will not stop until we reach a day where ALL people impacted by ALL types of Niemann-Pick disease have access to life-changing treatments and support.
Thank you again for your continued support. From all of us at NNPDF, have a safe and happy holiday.
Warm regards,
Joslyn Crowe
NNPDF Executive Director
We Remember Them
As a part of our Niemann-Pick community, please join the NNPDF in keeping all of our families in our thoughts now and throughout the year.
Celebrating Milestones in 2023
Navy Team Basketball is proud to welcome Caleb Woodard to the Navy Team Family! Caleb signed his Team IMPACT letter of intent and the N.T.F. is thrilled to have him join their team. Team IMPACT is a nonprofit that matches children facing serious illness and disability with college sports teams to create life-changing experiences. Congratulations, Caleb!
Linwood Lewis has celebrated many milestones so far this school year. Starting a new school, riding the bus, and attending his first Special Olympics! Even though Linwood wasn’t old enough to participate with most of the kids in the competition, the school that hosted the event prepared games and activities for the kids that were not old enough, including the grinch being arrested! Linwood’s PCP, Mrs. Davis, assists him all throughout the day and even rides the bus with him. Way to go Linwood!
Who’s that under the lights? It’s Allison Reiter! Allison has been keeping herself busy with not 1, but 2 on stage productions! She participated in Footloose at the Cultural Park Theatre and in Let’s Go to the Movies at the Belle theater in September. Way to go Allison!
Abby Alvey was honored with the Governor of Virginia declaring Feb 28th as rare disease day in the state of Virginia. His staff are in the photos giving us the Proclamation. She also helped host rare disease day in her school where all the classes K-5 had a morning lesson plan about rare disease. Way to go Abby!
Allison Reiter raised $2,000 and was the top fundraiser for Best Buddies Southwest Florida chapter. Allison also became the state ambassador of the program. Great job Allison!
If you have a special Milestone you’d like to share with your Niemann-Pick community please send us a photo and the details to nnpdf@nnpdf.org.
Linwood is a kindergarten graduate and is off to the first grade! Linwood loved kindergarten and made so many friends this year! Linwood plans on spending his summer going to baseball games and hanging out with family and friends! Congratulations Linwood!!
Congratulations Tinley Apt who has been doing remarkable since starting enzyme replacement treatment for ASMD in August 2021. She was so excited to get to play soccer last summer and keeps busy and active with coloring, playing with friends and loves to swim in the summer. GO TINLEY!!
Congratulations to Evren Ayik! Evren was selected by Uplifting Athletes as a Broncos Country Hero of the Game at the Sunday, January 8th game between the Denver Broncos and the Los Angeles Chargers. Evren shares “One of the best experiences of my life! Thank you to the Uplifting Athletes and Denver Broncos for this very special and memorable experience!” Way to go Evren!! You can check out the video on Facebook.
Do you have a special milestone to share? Send us a photo along with the details to nnpdf@nnpdf.org and we’ll publish in an upcoming newsletter!
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.
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!
THANK YOU to Attley Martin who hosted a craft sale and chose to send a portion of her proceeds to the NNPDF in honor of her very special aunt, Kelly Schoenecker. Pictured are Julie Martin, Annika Schoenecker, Kelly Schoenecker, Meggie Martin, and Attley Martin. And we LOVE the awareness shirts!!
THANK YOU to Thermo Fisher in raising over $16,000 for the National Niemann-Pick Disease Foundation! Thermo Fisher’s St. Louis site hosted its 2nd Annual Made For Patient Program Trivia Night. The Made For Patient Program, supported by the Pharma Services Group, is designed to support Thermo Fisher Scientific’s mission and connect employees with the amazing work they do for patients every day. With over 200 people in attendance, great fun and fundraising was had by all as the site honored the NNPDF. This year, the St. Louis Made For Program Team raised over $16,000, with their Thermo Fisher company match program, for the NNPDF. During the evening, there were many moments and bonus questions built around Niemann-Pick Disease.
The company’s Made For Patient Program focuses on creating awareness around the patients that receive the products that are manufactured throughout their biologics sites so that all employees have a greater sense of quality, understanding, and pride.
NNPDF Action Alert! Sign on letter for the FDA in support of Arimoclomol
NNPDF along with other advocacy organizations and leaders, including Ara Parseghian Medical Research Fund, Dana’s Angels Research Trust, Firefly Fund, Hide and Seek Foundation, Hope for Marian, and Support of Accelerated Research (SOAR), have engaged with both Zevra and FDA over the past years to ensure that they understood the significant unmet medical needs faced by those living with NPC, and to advocate for reasonable and appropriate flexible clinical trial and regulatory approaches for all drugs for this ultra-rare disease.
Arimoclomol, an experimental drug being developed by Zevra Therapeutics completed a Phase 2/3 clinical trial in 2019. The primary endpoint assessing benefit on the 5-domain NPC Clinical Severity Scale (NPCCSS) was met, forming the basis of a New Drug Application (NDA) submitted to FDA for review. FDA concerns with the NPCCSS scoring, statistical methods, and extent of confirmatory evidence led to a Complete Response Letter (CRL) being issued by FDA in 2021, denying approval of the drug.
Since the CRL, Zevra has been working diligently to develop the additional data, information, and analyses needed to address the issues raised in the CRL, including through meetings with FDA, to form the basis of a resubmission of the NDA. With Zevra’s plans to complete this resubmission in the coming weeks, it is important that our community’s voice is heard.
We are taking action and we need your support and input!
Learn more at
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 familyservices@nnpdf.org if you have any questions about this program.
NNPDF Store
Our store is open and has some great items to help 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 and are available in T-Shirt or Hoodie options. Be sure to check out our NNPDF apparel and logo items! Send us your photos with your new gear!
Join ASMD Accelerate, Contribute to ASMD Research
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 its Phase 2 clinical trial RAINBOW study, evaluating nizubaglustat in GM2 and NPC patients, is now fully enrolled. While unfortunately there are no actively recruiting studies with nizubaglustat in the US at the moment, Azafaros is working to initiate phase 3 studies globally, including the US.
Please see Azarafos’ complete message for the Niemann-Pick community below.
Read complete announcement.
Read the message.
Update from Cyclo Therapeutics: Cyclo Therapeutics announces positive outcome from type C meeting with the U.S. FDA discussing Trappsol® Cyclo™ Clinical Program for the treatment of Niemann-Pick Disease type C1. Read complete announcement.
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 lturner@nnpdf.org.
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 familyservices@nnpdf.org or call 920-542-4038
