Hello NTSAD,


As we reflect on 2024, we are deeply grateful for the unwavering support of our community. Your dedication has made a profound impact, enabling NTSAD to continue its vital work in advancing research and providing critical support to families affected by Tay-Sachs, Canavan, GM1, and Sandhoff diseases.


Looking ahead to 2025, we renew our commitment to accelerating progress, fostering hope, and working tirelessly to improve the lives of those we serve. Together, we will continue to push boundaries, support each other, and create a brighter future for individuals and families who depend on us.


May 2025 bring continued strength, progress, and the promise of new possibilities for all. Thank you for being an essential part of this journey.



Warm regards,

Kathleen Flynn, CEO, NTSAD

Be sure to like and follow NTSAD on social media for the most current rare community news and information.

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2024: A Year in Review


As we look forward to all 2025 has to offer, we reflect on the progress we’ve made together in 2024.


Thanks to the unwavering support of our community—donors, researchers, caregivers, volunteers, and advocates—we’ve made significant strides in advancing research, raising awareness, and providing critical resources for those affected by Tay-Sachs, Canavan, GM1, and Sandhoff disease.


We will continue to steadfastly serve the rare community in 2025, and until families and individuals coping with these diseases see a world with a cure.

What's Ahead for NTSAD in 2025?

Fourth Regional Family Meetup in Orlando, Florida - February 1-2, 2025


WORLD Symposium in San Diego: NTSAD hosting a booth and presenting posters the first week of February



Rare Disease Month and Rare Disease Week including EveryLife and NIH meetings at the end of February


Fourth Annual NTSAD presentation for MGH-IHP Genetic Counseling class in March

NTSAD Annual Family Conference, Industry Roundtable, and Scientific Symposium in Dallas – accepting registrations, hotel reservations, and sponsorships


2025 Day of Hope

Raise awareness and funds for NTSAD research and family support programs


Fifth Regional Family Meetup

(Location TBD)


Research Initiative RFP for 2025-2026


Imagine & Believe in November 2025

And much more as we meet families where they are, create community, foster collaborations, and push research toward potential therapies. If you're interested in what we're doing- or would like to connect at any of the meetings in 2025, let us know!

All the Annual Family Conference Information at your Fingertips


Do you have questions about the Annual Family Conference? View our new Annual Family Conference brochure, an "Everything You Need to Know" resource for individuals and families!


Here you'll find important dates, FAQs, the newly revised Helping Hand policies, registration info, programming notes, and more.


Follow the link below to register, reserve your room, or apply for a Helping Hand grant.

Learn More and Register HERE

Helping Hand Grant Applications DUE no later than Friday, January 15, 2025

2025 Annual Family Conference Sponsorship Opportunities


The Annual Family Conference experience is made possible by the generosity of friends, supporters, and industry partners. Please consider sponsoring our next Annual Family Conference in April 2025.


For 47 years, NTSAD's Annual Family Conference has provided:


  • Families a safe space to support and learn from one another
  • An opportunity for families, individuals, researchers, clinicians, and industry members to learn from one another
  • A camp experience for children living with the disease, and for siblings to connect with others just like them precious time not feeling alone


For questions about sponsoring the Conference, please email development@ntsad.org.

Learn More HERE

An Update from IntraBio


The U.S. Food and Drug Administration (FDA) has accepted IntraBio’s supplemental New Drug Application (sNDA) for review for AQNEURSA™ (levacetylleucine, IB1001) for the treatment of GM2 Gangliosidoses.

Read the Full Update HERE

Canavan Biomarker News


A study led by scientists from Massachusetts General Hospital and Aspa Therapeutics has recently been published: By analyzing data from the CANinform natural history study and the literature, researchers found that urine NAA levels reflect ASPA enzyme activity, which is linked to the patient's genotype. This discovery may allow the use of urine NAA in clinical trials to indicate that a drug is effective and that there is likely to be a clinical benefit.

Read the Paper HERE

RETRIEVE Clinical Study Findings


A new study on GM1, GM2, and Gaucher disease type 2 gathered data from 225 pediatric patients with early-onset neurodegenerative diseases across 10 countries.


The research aimed to explore the feasibility of combining these diseases in future clinical trials, as they share similar neurological progression, early mortality, and pathology. However, the study found differences in survival and symptoms, suggesting these diseases should not be pooled in future trials.

Read the Full Paper HERE

Mission Moment: Meet Lily

"Lily is a vibrant and happy 11-year-old who fights juvenile Tay-Sachs every day. She does not get to have a typical childhood. Lily's days are filed with a multitude of therapies. We fight to keep her respiratory system strong with medical equipment such as a cough assist machine and shake vest, which are brutal therapies to endure every day. Lily enjoys her weekly visits to equine therapy that also assist in keeping her core strong. She is a true inspiration to see. While she's slowly losing all her abilities, she does it with a smile that lights up everyone’s world. She is a true hero fighting a cruel battle." - Yasmina, mom to Lily

Staff

Kathy Flynn, CEO

Becky Benson, Family Support & Engagement Manager

Mackenzie Briggs, Administrative Assistant

Valerie Greger, PhD, Research Director

Diana Jussila, Director of Family Services

Cynthia Perreault-Micale, PhD, Research Manager

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