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Hello Friend -
As summer winds down and a new school year begins, we are encouraged by the remarkable progress taking place across the NTSAD community. This month's newsletter highlights important research milestones that are expanding our understanding of the diseases we serve and demonstrating the impact of our community's investment in research, new opportunities to connect and support one another, and inspiring stories that remind us why our work matters. Every step forward is made possible by the collective commitment of our families, clinicians, researchers, industry partners, volunteers, and generous donors.
In this issue, you'll read about the FDA's authorization to initiate plans for a Phase1/2 gene therapy clinical trial for GM2, an exciting genetic discovery that may improve the diagnosis of Sandhoff disease, upcoming opportunities to raise awareness and gather together for Day of Hope events and our regional meetup, the launch of our new NTSAD Community Voices blog, and a heartfelt Mission Moment highlighting the sibling experience.
Thank you for being an essential part of this community and for all you do to move hope—and progress—forward.
Warm regards,
| | An Important Milestone for the GM2 Community | | |
The U.S. Food and Drug Administration (FDA) has authorized a University of Massachusetts (UMass) Chan Medical School research team to proceed with a second-generation investigational AAV gene therapy Phase 1/2 clinical trial for GM2.
This significant advancement would not have been possible without the generous support of members of the NTSAD community. We are deeply grateful to and wish to recognize the families and donor-restricted funds whose commitment made this important research possible, including the Cameron & Hayden Lord Foundation, the Heringer Family Research Fund, the Katie & Allie Buryk Research Fund, the LOTS Research & Education Fund, the New York Area Fund, Susan and Alan Roden, the Sussman Family Fund, and the Vera Pesotchinsky Research Fund.
Combined with support from the NTSAD Research Initiative Fund, NTSAD is proud to support this research in partnership with the Blu Genes Foundation, the Cure Tay-Sachs Foundation, and the Mathew Forbes Romer Foundation. Together, our collaborative investment in this pivotal research is helping drive meaningful progress toward approved treatments for Tay-Sachs and Sandhoff diseases.
A team from UMass, Massachusetts General Hospital, and the National Institutes of Health – along with input from the patient advocacy organizations – are working on the necessary steps needed to launch the clinical trial. When additional details become available, NTSAD will share these updates with our Tay-Sachs and Sandhoff community.
We congratulate Dr. Gray-Edwards, Dr. Sena-Esteves, and the entire UMass Chan research team on this important achievement and extend our deepest gratitude for their dedication and determination to advance research for the GM2 community.
| | Exciting Research Discovery in Sandhoff Disease! | | |
Sandhoff disease is caused by two variants (mutations) in the HexB gene. A recent publication has shown that an important Sandhoff variant has largely gone undetected due to both technical limitations and a lack of knowledge to recognize it as disease-causing. Researchers identified a rare genetic change (called c.771+ 985G>A) that had previously gone undetected by standard genetic testing. Since routine sequencing techniques miss this variant type, the authors needed to use advanced techniques to be able to identify this variant. They also were the first to show that it is disease-causing.
Importantly, this variant may be a founder variant in the Greater Middle Eastern population. A founder variant is a prevalent variant in a distinct population that can often be traced back to a few ancestors. This variant may account for those individuals with clinical and biochemical diagnoses where only one or no pathogenic HexB variants could be identified. Individuals with a Sandhoff disease diagnosis, but negative testing for Sandhoff variants by standard sequencing, may wish to consider testing for the HEXB c.771+985G>A variant, especially if they are of Greater Middle Eastern ancestry. This variant may also be a useful addition to future carrier screening panels.
| | Announcing Our New Blog: NTSAD Community Voices | | |
In July, we launched our new blog, NTSAD Community Voices, featuring monthly stories, insights, and perspectives from families, researchers, advocates, and partners working to advance awareness, support, and progress for individuals and families affected by Tay-Sachs, Canavan, GM1, and Sandhoff diseases.
In our first blog post, NTSAD’s CEO Kathy Flynn and Board President Jon Lawrence reflected on the current state of our community, highlighting a year of meaningful progress, key milestones that have moved us forward, and the work ahead as we continue to expand advocacy efforts, advance research toward effective therapies, and support families at every stage of the journey.
Visit our website to read our inaugural post and stay tuned for our August blog, which will be published later this month!
| | Supporting NTSAD: Gifts, Grants, and Opportunities | | Move a Mile for Day of Hope: Saturday, September 19, 2026 | | |
Join us on Saturday, September 19, for our 16th Annual Day of Hope, where our community will move a mile in their own way to raise awareness and critical funds for research, advocacy, and support for individuals and families affected by the rare diseases we serve.
Walk, run, stroll, bike, or dance! Do it solo or gather your friends, family or team. No matter how you move, you’re moving hope forward.
Visit our Day of Hope webpage or contact our Development & Communications Manager, Erin Demers at edemers@ntsad.org, to learn more about ways to get involved, including getting your personalized fundraising link and webpage with NTSAD!
| | Join Us for Imagine & Believe 2026! | | |
Our annual signature fundraiser, Imagine & Believe, will take place on Thursday, November 12, at the Hyatt Regency Boston/Cambridge. Join us for an inspiring evening that unites our generous donors, industry leaders, clinicians, researchers, advocates, and members of our rare disease community around a shared vision: a world free from Tay-Sachs, Canavan, GM1, and Sandhoff diseases, and a belief in the power of science, support, and community to make that vision a reality.
This year, we'll recognize Dr. Florian Eichler from Massachusetts General Brigham, who has been a trusted partner, advocate, and leader within the NTSAD community for more than 20 years.
Funds raised through Imagine & Believe directly support essential family services, groundbreaking research, and advocacy efforts that are changing lives every day. From supporting newly diagnosed families to advancing translational research, this event fuels progress and hope.
| | We’d Love to See You in Fort Lauderdale this September! | | |
NTSAD is hosting a regional meetup for families and individuals in the Fort Lauderdale area this September!
If you’re in the southern Florida area, we would love for you and your immediate family to join our Director of Family Support, Becky Benson, and others at the Fort Lauderdale Marriott North on September 19. NTSAD will cover one hotel night for those driving in from two hours away or further. We'll have a time of connection, Move A Mile for the 16th Annual Day of Hope, enjoy a group dinner, and then have breakfast together the next morning.
Please let us know if you can join us by emailing becky@ntsad.org by August 10. We'll be in touch soon with our complete itinerary and further hotel and meal information.
| | Growing Up Rare: The Sibling Perspective | | This month’s Mission Moment highlights our newest rare family impact story featuring three rare siblings who grew up attending the NTSAD Annual Family Conference year after year. Samie, Emma, and Esteban are now young adults who reflect on what it meant to them to grow up with a rare sibling, experience loss at a young age, and have a supportive community who understood what rare life looked like first-hand. | | |
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Staff
Kathy Flynn, CEO
Becky Benson, Director of Family Support
Erin Demers, Development and Communications Manager
Valerie Greger, PhD, Research Director
Cynthia Perreault-Micale, PhD, Research Manager
Adie Woolf, Development and Communications Assistant
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