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Hello NTSAD,
While the Annual Family Conference concluded on April 27th, the NTSAD community remains deeply committed to providing essential support and advancing scientific breakthroughs that lead to approved therapies.
This spring, our advocacy and presence have been felt across key platforms. In April and May, we participated in the Act for Ultrarare meeting in Washington, DC, which focused on the future of drug development; the Great Lakes Rare Disease Summit in South Dakota, where I had the privilege of speaking about NTSAD; and the American Society of Cell and Gene Therapy Annual Meeting in New Orleans, where four research posters—focused on GM1, GM2, and Canavan diseases—highlighted contributions from our dedicated scientific community, including two studies supported by NTSAD research grants.
Together with patient advocate organizations worldwide, we gathered and shared critical feedback from the GM2 community with the FDA, requesting a meeting to discuss the approval of a promising medication already approved for Niemann-Pick Type C. Thank you to everyone who completed the survey and bravely shared their stories—your voices are making a difference. I was invited to participate in a meeting with the FDA and industry sponsor later this month.
Looking ahead, as we prepare for the Juvenile GM1 and GM2 Listening Session with the FDA in August, our Day of Hope and regional family gathering in September, and our signature fundraising event—Imagine & Believe—in November, we remain dedicated to keeping families at the heart of all we do.
Warm regards,
| Kathleen Flynn, CEO, NTSAD | | |
NTSAD at ASGCT
The 2025 American Society of Gene & Cell Therapy (ASGCT) Annual Meeting featured four posters and a presentation showcasing research across all the rare diseases represented by NTSAD:
GM2:
A promising gene therapy clinical trial from UMass Chan Medical School (@umasschan), with Florian Eichler, MD, of Massachusetts General Hospital serving as Principal Investigator, was highlighted.
GM1: (two posters)
Amanda Gross, PhD, of Auburn University (@auburnu), presented preclinical research using feline models, supported by an NTSAD research grant.
Connor Lewis from the NIH (@nihgov) shared updates from the NIH’s ongoing gene therapy clinical trial for GM1.
Canavan:
A research trial sponsored by Aspa Therapeutics (@aspatherapeutics), a BridgeBio company, emphasized continued progress in gene therapy for Canavan.
Of special note, Myrtelle, Inc. (@myrtelleinc) presented an update on their participation in the FDA’s START Pilot Program, a regulatory initiative designed to accelerate the development of therapies for rare diseases, underscoring key regulatory momentum in the Canavan research landscape.
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Billion To One Prenatal Screening
Exciting news! Our partners at Billion To One have launched UNITY Complete, an expanded prenatal screening assay that now includes Tay-Sachs and Canavan diseases. This test helps identify carrier status and assesses fetal risk using cell-free DNA—bringing powerful information to expectant families.
We remain grateful to all the families who participated. We're proud to have collaborated on this important step forward and look forward to continued partnership!
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Save the Date!
Thursday, November 6, 2025
6:00pm - 9:00pm Hyatt Regency Boston/Cambridge
Join us as we gather for a memorable evening honoring the Lord Family, including inspiring family stories, a cocktail reception, and a silent auction.
Sponsorship opportunities are available. Donations are welcome.
| | Advocacy, Awareness, and Giving | | |
House of Representatives Pass Harmful Budget Reconciliation Legislation
The House of Representatives passed budget reconciliation legislation that includes harmful healthcare policies that will cause 8.6 million people to lose Medicaid coverage and over 13 million people total to lose health insurance. The legislation represents the largest cut to Medicaid ever, a lifeline for millions in the rare disease community, providing benefits often unavailable through other payers.
The bill will now be transferred to the Senate, where Senators will have the chance to weigh in and make changes. The House passing the legislation was a concerning step, however there is still work that can be done. Your Senators need to hear your stories. Tell them that passing this bill will have dramatic consequences for the rare disease community.
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Rare Across America
Rare Across America registration is now open! Rare Across America 2025 is the opportunity to meet with your Members of Congress virtually and at their in-district offices and educate them on the issues that are most important to the rare community by sharing your story.
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You Can Fund Hope for Tomorrow, Today
As our fiscal year draws to a close, we at NTSAD are doubling down on our mission, with urgency and heart. Looming federal cuts could make it even harder for families affected by Tay-Sachs, Canavan, GM1, or Sandhoff disease to access the care and support they need.
Your donation will help us reach our goals and fill the gap to continue to provide lifelines of hope, advocacy, and connection while supporting research and planning for the future. Please consider making a donation by June 30th. Ask your company about gift matching programs to maximize your donation.
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2024 Impact Report
We are continuously reminded of the strength, resilience, and unwavering commitment of our ultra-rare disease community. Although the journey towards approved treatments and cures for Tay-Sachs, Sandhoff, GM1 gangliosidosis, and Canavan diseases remains an uphill battle, our collective resolve continues to shine brightly. Our 2024 Impact Report offers a snapshot of the progress we've made—progress that belongs to all of us in the NTSAD community.
We remain steadfast in our advocacy. Together, we amplify our voices to ensure that rare diseases are not forgotten, that research is accelerated, and that our loved ones have access to useful resources and support services. We stand united, knowing that every step forward is a victory, even when the path is difficult and progress feels slow.
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Join the NEW GM1 and GM2 Juvenile Family Support Group on Facebook!
Welcome, GM1 and GM2 juvenile families!
This compassionate, supportive space is where families navigating a juvenile GM1 or GM2 diagnosis or loss can connect, share, and find strength together. If you are a family member of a child affected by juvenile GM1 or GM2, consider joining this new group.
All families coping with a Tay-Sachs, Canavan, GM1, or Sandhoff diagnosis are welcome to join the NTSAD Family Support Group on Facebook as well.
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Father's Day Is
Sunday, June 15, 2025
This Father's Day we honor the fathers who walk the rare path with extraordinary strength. Your love, courage, and relentless advocacy for your child inspire us all. You carry the weight of the unknown on your shoulders and never stop fighting for hope.
Thank you for being the steady hand, the fierce protector, and the unwavering heart behind every battle. You are seen. You are appreciated. You are loved.
| | Mission Moment: Meet Barry | | |
"Barry is 42 years old. He was diagnosed with Late Onset Tay-Sachs in 2015, after a few of years of symptoms and misdiagnoses. When the doctor sat him and his parents down to give him that diagnosis, he said, “Tay-Sachs? Isn’t that a Jewish Disease?” The doctor went on to explain that it’s found in the Ashkenazi population among others…when Barry quipped, “Oh don’t worry, I’ll convert!” That sense of humor is why I fell in love with him just two months after that interaction.
When his mom found NTSAD, I don’t think anyone could have known that the LOTSS group would become additional family members that Barry needs to navigate through this diagnosis and changes in his lifestyle.
Together we love to travel, go to comedy shows, and concerts (though we have differing tastes in music). Barry has a great head for numbers and loves working as a School District Treasurer (and the District loves him just the same). When you see him at the next conference, don’t be surprised if you spot him racing on his scooter or smack talking with his Late Onset friends." - Sarah, wife to Barry
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Staff
Kathy Flynn, CEO
Becky Benson, Family Support & Engagement Manager
Valerie Greger, PhD, Research Director
Diana Jussila, Director of Family Services
Cynthia Perreault-Micale, PhD, Research Manager
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