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Hello Friend -
As we embrace autumn, I’m encouraged by the momentum across the NTSAD community. Last month, families came together in Florida for a Regional Family Meetup, and our community marked Day of Hope with awareness and fundraising events across the country. Most recently, we brought together 14 clinicians and researchers from the U.S. and abroad for our inaugural Canavan Think Tank—a meaningful step toward strengthening collaboration and accelerating research toward treatments for Canavan disease. The meeting, modeled after the LOTSS Think Tank, reflected what can happen when families, researchers, and NTSAD come together with a shared sense of urgency and purpose. We’re also pleased to share exciting new published research in Tay-Sachs and Sandhoff disease, including promising findings from large-animal models that continue to advance our understanding of potential gene therapy approaches.
Thanks to an amazingly motivated committee, plans are well underway for Imagine & Believe, NTSAD’s annual fundraiser next month. We hope you’ll join us as we raise funds for our mission and honor Dr. Florian Eichler for his extraordinary contributions to our rare disease community. Whether attending, sponsoring, or contributing an auction item, your support helps make continued progress possible.
Thank you for continuing to be part of the NTSAD community and for helping us drive our mission forward.
Warm regards,
| | NTSAD Hosts First Canavan Think Tank | | |
On September 24, 14 clinicians, scientists, and researchers from the U.S. and abroad gathered at UMass Chan Medical School for NTSAD’s inaugural Canavan Think Tank. The meeting brought the field together to share research updates, identify gaps, and explore opportunities for collaboration.
Sponsored by the Vayle Rose Fund at NTSAD, the meeting opened with a heartfelt video from Dawn Mariano, mom to Vayle, who lived with Canavan disease and passed away in 2023. Sharing her daughter’s joyful spirit, Dawn said, “She was the happiest, smiley-est little girl who laughed non-stop after the age of two. She loved school, she loved books, she loved going for walks... She truly just loved life.”
Dawn also expressed her hope for the meeting saying, “I’m so grateful that we were able to use the funds that were donated on Vayle’s behalf to help fund this Think Tank to get everybody together to continue researching for a treatment for such a rare condition.”
The day featured discussions on natural history, genetics and variants, outcome measures, imaging, and emerging cell and gene therapies. Keynote speaker Dr. Guangping Gao reflected on his decades of Canavan and gene therapy research. NTSAD Board President Jon Lawrence, whose 12-year-old son Cameron is living with Canavan disease, also shared his family’s journey and the urgent need for progress.
Inspired by NTSAD’s successful LOTSS Think Tank, the goal was to move beyond sharing information and begin identifying opportunities for the field to work together. The meeting marked an important first step toward continued collaboration and, ultimately, meaningful progress for the Canavan community.
A new NTSAD Community Voices blog featuring the full Canavan Think Tank story will be published next week.
| | WORLDFair 2026 Annual Meeting | | |
NTSAD virtually attended the Gangliosidoses breakout session at the WORLDFair Annual Meeting on September 18th. The session, moderated by Dr. Jeanine Jarnes, included updates from the ongoing clinical trials from Azafaros and Intrabio. Dr. Jagdeep Walia (Queens University, Canada) gave an overview about gene therapy and spoke about his efforts to develop a gene replacement therapy for GM2 gangliosidoses.
The session concluded with a presentation from Jack Keimel about the New Hope Research Foundation's plans for a gene therapy study for Late-Onset Tay-Sachs and Sandhoff disease.
| | Gene Therapy Research in Jacob Sheep | | |
Research using a large animal model of Tay-Sachs disease (TSD) has shown that AAV9 gene therapy can improve some of the ocular (eye) pathology associated with TSD.
A new study led by Dr. Heather Gray-Edwards of the UMASS Chan Medical Center, and funded in part by NTSAD, has just been published. Scientists used Jacob sheep, the only large-animal model in which TSD is naturally occurring, to examine the effects of bicistronic AAV9 gene therapy on the eye. Results show that cerebrospinal (CSF) delivery of this type of gene therapy can improve some of the disease processes that affect the retina and the optic nerve and thus may help with some of the eye problems caused by TSD.
A special thanks to the New York Area Fund for recently agreeing to support the Tay-Sachs sheep as they are re-homed from a UMass' facility to a farm in Knoxville, Tennessee.
| | Study Shows More Promising Results for Sandhoff Disease Gene Therapy | | Researchers from the laboratory of Dr. Doug Martin, one of NTSAD Scientific Advisory Committee members, recently published a study testing both the safety and effectiveness of the AAV9 bicistronic vector in a feline Sandhoff disease (SD) model. The vector was delivered intravenously, and results showed a dose-dependent increase in life span, as well as clinical benefits that most notably included the prevention of full-body tremors. Although the clinical trial will be necessary in the future to ultimately determine the safety and effectiveness of this gene therapy approach in people, this study supports the use of this vector and the potential promise of this treatment approach. | | Day of Hope 2026 Raises Over $20,000 | | |
Saturday, September 19 marked NTSAD's 16th Annual Day of Hope, a day when individuals, families, friends, and supporters moved a mile in their own way to raise awareness and critical funds for research and support for individuals and families affected by Tay-Sachs, Canavan, GM1, or Sandhoff diseases.
Since the first Day of Hope in 2011, our community has raised more than $800,000 to advance research and provide support for families facing these devastating diseases. This year alone, Day of Hope raised over $20,000. Thank you to all the individuals and families in our community who participated in Day of Hope 2026!
It's not too late to get involved - you can raise awareness and funds for Day of Hope all year long! Click the button below to learn more and get started today.
| | Developmental and Epileptic Encephalopathy (DEE) EL-PFDD | | |
DEEs are rare and severe epilepsy disorders that begin in infancy or early childhood and are categorized by hard-to-control seizures that do not respond well to standard anti-seizure medicines. NTSAD partner organization, DEE-P Connections is hosting an Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting on April 9, 2027. This meeting will center on the lived experience of communication and cognition challenges in DEEs.
Caregivers interested in speaking on their experience (either as individual testimony or in a panel discussion) at the EL-PFDD meeting are encouraged to learn more about the information to be collected, and to fill out the Speaker Interest Form by October 16.
| | Supporting NTSAD: Gifts, Grants, and Opportunities | | Imagine & Believe 2026: Join Us on November 12 | | |
Mark your calendars for Imagine & Believe, NTSAD’s annual signature fundraiser, taking place on November 12, at the Hyatt Regency Boston/Cambridge.
Imagine & Believe brings together our community of families, advocates, researchers, healthcare professionals, industry partners, and donors to recognize progress and raise critical funds that directly support groundbreaking research, essential family services, and advocacy efforts. This year, we are proud to honor Dr. Florian Eichler, who has been a trusted partner, advocate, and leader within the NTSAD community for more than 20 years.
As we prepare for this inspiring event, there are many ways to get involved. From purchasing a ticket to attend, becoming a sponsor, donating a high-value item or experience to our silent auction, or helping spread the word within your network.
Every contribution helps strengthen NTSAD’s mission and expand our impact.
| | Start Here: NTSAD's Newly Diagnosed Family Toolkit | | |
For families who are newly diagnosed, having clear information and practical support can make an overwhelming time feel a bit more manageable. We are pleased to introduce our Newly Diagnosed Family Toolkit, a new resource designed to help families understand the diagnosis, navigate the journey ahead, connect with support and resources, and feel more prepared to advocate for their loved one - in one convenient place.
We hope this toolkit provides a helpful starting point for families as they take their next steps together. Please feel free to share it with any families you feel could benefit from this information.
| | Share Your Experience: A Survey for Latinx Parents | |
Linnete Arceo, a genetic counseling student at the University of Arkansas for Medical Sciences, recently contacted NTSAD regarding a new Institutional Review Board (IRB) approved study she is conducting about Latino parents’ experiences with their child’s genetic care.
She is interested in learning how culture, family, and personal beliefs shape each family’s journey. To learn more, please click on the flyer below for more information. To participate in the study, follow the survey link below.
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34 individuals representing 11 rare families gathered together in Fort Lauderdale, Florida, for a special time of connection and peer support on September 19 and 20. Ready to Move a Mile for the 16th Annual Day of Hope, thunder and lightning dampened the plans for our group walk, but the spirit of camaraderie far outshined the weather as laughter and connection prevailed. The joy felt by these rare families and individuals reminds us that no matter how many years or miles separate us, we are all rare, all family, and all connected.
Stay tuned for more information on our next Regional Family Meetup, coming to Southern California in January 2027.
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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
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