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Hello Friend -
As we reflect on this year, I’m grateful for all we accomplished together. We hosted our 47th Annual Family Conference where nearly 300 individuals and families made connections and received updates. We hosted a Patient-led Listening Session with the FDA. Our Imagine & Believe event last month raised over $200,000 to support family services, research, and advocacy, and the evening was made even more extraordinary with the Lord family’s announcement of a transformative $1,000,000 gift from the Cameron and Hayden Lord Foundation to advance research for the ultra-rare diseases we support. Their incredible generosity—and the generosity of everyone who shared their time, talent, and resources with NTSAD throughout 2025 underscores the power of community and the belief that progress is possible.
Our community stands on the shoulders of those who came before us, and together we carry their legacy forward. Looking ahead, 2026 will mark the start of our two-year 70th anniversary campaign, and we’re committed to continuing this journey with you. As the year comes to a close, I wish you and your loved ones a peaceful holiday season and moments of comfort and connection in the weeks ahead.
Warm regards,
| Kathleen Flynn, CEO, NTSAD | | Burden of Caregiving of Individuals with GM1 and GM2 Gangliosidoses in the United States: a Qualitative Study | | |
This qualitative study aimed to understand the humanistic burden of GM1 and GM2 gangliosidoses from caregivers’ perspectives by expanding knowledge on the day-to-day responsibilities of primary caregivers and the impacts experienced while providing care and support, and features NTSAD’s Director of Family Services, Diana Jussila as one of the authors.
| | First U.S. Study Site Open for Azafaros’ Phase 3 Clinical Trial: NAVIGATE | | |
NAVIGATE is a double-blind placebo-controlled study, investigating the safety and efficacy of oral nizubaglustat, an investigational product designed for the treatment of late-infantile/juvenile forms of GM2 (Tay-Sachs and Sandhoff), GM1 gangliosidosis, and Niemann-Pick type C disease.
The opening of the first study site in the U.S. marks another significant milestone in advancing treatment research for individuals and families affected by GM1, GM2, and Niemann-Pick disease.
The inaugural U.S. site is located at Children's Hospital and Research Center in Oakland, California, under the leadership of Dr. Caroline Hastings, who will serve as the site’s Principal Investigator.
Additional U.S. sites for the NAVIGATE trial are expected to open in the upcoming months.
If you are interested in participating, reach out to your care team and ask for a referral to one of the study sites or reach out to the NTSAD for more information.
For more information about the NAVIGATE study, visit www.navigate.azafaros.com.
For more information on all clinical trials for GM1, GM2, and Canavan diseases, please click the button below.
| | Advocacy, Awareness, and Giving | | Support the Fight to Pass the Give Kids a Chance Act: Send a Message to your Senator Today! | | |
The House is set to vote on the Give Kids a Chance Act soon!
Unfortunately, the Rare Pediatric Disease Priority Review Voucher Program expired on December 20, 2024, leaving many rare disease drugs waiting in the pipeline. Our fight to reauthorize the Rare Pediatric Disease PRV Program continues. Please join us in urging the Senate Health, Education, Pensions, and Labor (HELP) committee to help reauthorize this critical program by passing the Give Kids a Chance Act of 2025 (H.R. 1262/ S. 932).
The Give Kids a Chance Act, which would reauthorize the PRV Program for five years, has made progress in the House, and we need the Senate to act too. Now is a critical time to tell your Senator to support the reauthorization of the PRV Program.
Your Senator is a member of the HELP Committee, which is responsible for this bill’s markup process. During this process, committee members review, analyze, and refine the bill and then vote to send the bill to the full Senate for consideration. The markup process is a crucial step toward getting the PRV Program reauthorized.
| | Together, We Made an Impact! | | |
Thanks to the incredible generosity of our community, Imagine & Believe raised over $200,000 to fuel NTSAD’s mission. These funds will directly support families, advance research, advocate for and strengthen our commitment to finding treatments, therapies, and eventually a cure for Tay-Sachs, Canavan, GM1, and Sandhoff diseases.
We are deeply grateful to our sponsors, donors, honorees, and volunteers whose contributions and support made this success possible!
| There’s still time to support our mission - one last opportunity to bid in NTSAD’s online auction on the few treasures that remain. | Auction closes at 11:45 PM on December 12; check it out before it ends! | | |
NTSAD Receives Milestone $1,000,000 Gift
NTSAD received the largest single gift in its 68-year history — a $1,000,000 contribution from the Cameron and Hayden Lord Foundation. The surprise announcement was shared by the Lord family at Imagine & Believe last month and will accelerate NTSAD’s research initiatives.
This incredible leadership gift will help launch a two-year 70th anniversary fundraising campaign, which will commence in 2026.
| | Honoring Giving Tuesday: Thank You for Supporting NTSAD | | |
Your Impact Multiplied: Matching Gifts and More
December 2 marks Giving Tuesday - a global celebration of generosity and community.
At NTSAD, we’re grateful for the incredible support of our families, donors, and sponsors who make our mission possible every day.
Did you know many employers offer matching gift programs? If you’ve already given this year, your company may be able to double (or even triple!) the impact of your contribution.
There are several ways to give, including monthly gifts, estate planning, and gifts of stock. Visit the Ways to Give button below for more information or contact Erin Demers, Development Manager, at edemers@ntsad.org to see how you can make a lasting impact.
Thank you for standing with us and fueling advocacy, research, and support for families.
| | Juvenile GM1 and GM2 Listening Session Summary | | |
In August, NTSAD hosted a virtual Patient-led Listening Session focused on the juvenile onsets of GM1 and GM2 (Tay-Sachs and Sandhoff) in front of members of the Food and Drug Administration (FDA). The meeting allowed families to underscore the importance of flexibility when it comes to clinical trial design for ultra-rare diseases like the ones that affect their children. They each shared how the diseases impact their children and their families on a daily basis, and what it would mean to have access to therapies that could make their days even a little more bearable.
Our thanks to Dr. Cynthia Tifft (NIH) who shared clinical overviews of juvenile GM1 and GM2, the five family members who bravely shared their stories, the families who shared their comments worldwide, and Board President Sara Scaparotti who offered closing remarks. A published summary will soon be available on our website pending final approval by the FDA.
| | Community-Wide Holiday Party! | | |
Join NTSAD’s Board, staff, families and individuals, volunteers, supporters, and friends on Wednesday, December 17 at 7:00pm EST for a community-wide holiday party. Register to attend via the Zoom link below and the week before the party you’ll receive a Virtual Goodie Bag featuring our signature purple holiday mocktail recipe, festive Zoom background, link to decorate the virtual Star Gratitude, and link to the NTSAD Spotify Holiday Playlist curated by families and individuals!
Please register for the Zoom Holiday Party by December 10 to receive your Virtual Goodie Bag.
| | NORD Claim Your Care Program | | |
The NORD Claim Your Care program is designed to enhance health coverage literacy by helping rare disease Patient Advocacy Organizations (PAOs), patients, and caregivers better understand and navigate health insurance and coverage-related challenges. The materials featured have been specifically designed to educate individuals and families living with rare diseases on health coverage basics as well as address the challenges they may encounter in utilizing their health plan(s).
View NORD’s Insurance Navigation Guides and more learn more by clicking the button below.
| | Worldwide Candle Lighting | | |
Join us in observing the Compassionate Friends Worldwide Candle Lighting, which unites family and friends around the globe in lighting candles for one hour to honor the memories of all the sons, daughters, brothers, sisters, and grandchildren who left too soon.
Plan to light your candle on December 14 at 7:00pm local time to create a wave of light that moves from time zone to time zone as we honor the memory of all children gone too soon all evening long.
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Every month, we witness the strength of individuals, like Allie, living with a rare disease. The compassion of people like you supporting them helps us carry out our mission.
“I was diagnosed with late onset Tay Sachs disease, January 2022. I had grown up playing sports my entire life and had not had symptoms until later in my life, so it was quite a shock to receive such a diagnosis.
I immediately wanted to find others like me and was introduced to NTSAD when I went to the WORLD Symposium in February 2022 and met Chester Whitley and Jeanine Jarnes. Through NTSAD I have met others like me, and we have shared our stories to help support each other. I have now made it a mission of mine to spread awareness about the disease over the years. In 2024, we had our first Walk a Mile for Hope to raise money for research for Tay Sachs. It was so heartwarming to see so many people come out and support us. This year we hosted our second annual Walk a Mile for Hope and again it was a huge success.
I also like to raise awareness through the Challenge Athletes Foundation who has also supported me through my journey with this disease. I have started to play wheelchair tennis, which has allowed me to get back onto the courts and do something that I love that’s very active. I have met so many wonderful people through being diagnosed with this disease in a way it has enriched my life. I have so much to look forward to as [my partner] Ben and I are expecting our first son in December. While becoming a mother and not knowing how that will affect me physically with my disease and how it will affect my child, I still have so much hope for our family.
I will continue to host our annual Day of Hope to help raise money for a cure so that we can hopefully end this disease someday with our efforts. I am so grateful for everyone that has rallied around our cause and will continue to keep fighting and advocating for our community.”
- Allie G.
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Staff
Kathy Flynn, CEO
Becky Benson, Family Support & Engagement Manager
Erin Demers, Development Manager
Valerie Greger, PhD, Research Director
Diana Jussila, Director of Family Services
Angela Papierski, Development Assistant
Cynthia Perreault-Micale, PhD, Research Manager
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