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Hello Friend -
As we approach this year’s Imagine & Believe — just days away, I am filled with excitement and gratitude for what promises to be an unforgettable evening of hope, community, and progress. This signature event not only brings us together in shared purpose but also fuels the vital work we do every day — supporting families, advancing research, and driving advocacy for those affected by Tay-Sachs, Canavan, GM1 gangliosidosis, or Sandhoff diseases.
This year, we are especially honored to recognize the Lord family for their extraordinary leadership and more than 25 years of unwavering support of NTSAD. Our heartfelt thanks go out to our generous sponsors, auction item donors, and the dedicated event committee and staff whose tireless efforts have made Imagine & Believe possible. I hope many of you will join us, whether in person or online to support our vital annual fundraising efforts.
Together, we are building a future where every family can imagine and believe in hope.
Warm regards,
| Kathleen Flynn, CEO, NTSAD | | GEMMABio Announces the Launch of Rare Therapeutics, Inc. | | |
GEMMABio announces the launch of Rare Therapeutics, Inc. (RareTx) a clinical-stage company that will develop gene therapy treatments for ultra-orphan disease patients worldwide. RareTx will initially focus on several promising treatments for lysosomal storage diseases including GM1 gangliosidosis (“GM1”), Krabbe disease (“Krabbe”) and metachromatic leukodystrophy (“MLD”).
RareTx, an affiliate of GEMMABio, will prioritize ultra-orphan disease populations. GEMMABio will remain focused on drug development for rare diseases affecting larger populations. The clinical programs in RareTx are not yet open, but the company will reach out with additional information when it becomes available.
A website for RareTx has been established, and it is located at raretx.us.
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A select group of expert researchers and clinicians convened for the 8th annual LOTSS Think Tank meeting last month in Hilton Head, SC. The Think Tank is co-chaired by Dr. Cynthia Tifft (NIH), and Dr. Steve Walkley (Einstein) and is hosted by the Buryk family, Katie & Allie Buryk Research Fund, and NTSAD. The purpose of this working meeting is to present updates, review ongoing projects, and set goals to accelerate research related to the adult form of Tay-Sachs and Sandhoff diseases.
The new COPING with LOTSS Study led by Dr. Steven Kushner at Columbia, ongoing clinical trials and preclinical work, and projects to make delivery of therapeutics less invasive and faster were discussed. The group also discussed identifying drugs approved for other indications or diseases that may also be effective in treating LOTSS patients. The recently established biomarker working group spoke about their work to gather the data to convince the FDA to accept biomarkers as endpoints in clinical trial design. If successful, this could lead to shorter (and therefore more affordable) clinical trials. The meeting closed with a panel of those directly impacted by LOTSS who presented the patient perspective on exercising and physical movement.
| | Results of the AMETHIST Trial Published | | |
The AMETHIST randomized controlled and basket clinical trials were conducted by Sanofi for two years after several years of research and partnership with NTSAD. However, in 2024, it was determined that there was no clinically meaningful benefit to the adults in the primary arm of the study. The secondary arm (basket trial) has shown that children affected by the juvenile onsets of GM1 gangliosidosis and GM2 gangliosidosis are stable, which is incredibly important for a progressive disease.
While the outcomes for adult patients were not what we had hoped for last year, participants made a significant contribution to the study of these ultrarare conditions, which will hopefully lead to further scientific advancements. NTSAD remains committed to educating drug developers and regulators about meaningful outcomes for future trial designs.
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New “Resources for Professionals” Now on Our Website!
A new “Resources for Professionals” section has been added to our website and is located under the Research tab.
It contains a series of documents aimed at researchers and health care professionals. The four new categories include: Understanding Therapeutic Approaches, Variant (Mutation) Database, Off-Label Drug Information, and Treatment of Psychiatric Symptoms in Late-Onset GM2 Gangliosidosis.
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Recently Discovered Canavan Variant
A novel Canavan variant (mutation) has just been discovered. It is located in a part of the gene that is difficult to detect and usually not analyzed (technical term: deep intronic SVA_E insertion). It may possibly be the most common pathogenic variant and could account for those individuals with clinical and biochemical diagnoses where only one or no pathogenic ASPA variants could be identified. It has previously gone undetected in decades of Canavan disease research due to technological limitations. The discovery of this variant highlights the importance of improving variant detection in both diagnostic and carrier screening applications.
Two publications describe 13 patients identified to date with this variant. Access the publications here:
PMID: 40257001: https://pubmed.ncbi.nlm.nih.gov/40257001/
PMID: 40995055: https://pubmed.ncbi.nlm.nih.gov/40995055/
Make sure your healthcare provider and carrier or diagnostic screening resource is aware of this variant and will test for it!
| | Advocacy, Awareness, and Giving | | Natera Launches DYADS Study | | |
Natera is conducting a clinical study for patients and families affected by Tay-Sachs or Canavan diseases to develop a new non-invasive prenatal test to determine whether an unborn baby may be affected by the condition to facilitate appropriate care as soon as possible upon birth.
The study requires one blood sample from a mother who is a carrier and their child – they are interested in samples from both affected and unaffected children. After virtual consent, the blood draw can be arranged with a mobile phlebotomy unit, or they can send the collection kit to the patient/family and it can be collected during a routine blood draw at a doctor's appointment.
Participants in this study will be compensated for their time.
Natera believes this study will substantially contribute to enhancing screening options for these conditions in the future. Please reach out to the contact on the flyer for any questions and to participate!
| | Imagine & Believe is Just Days Away! | | |
Join us on Thursday, November 6th for our signature fundraiser, Imagine & Believe!
This year, we proudly recognize Tim and Alison Lord, and Charlie and Blyth Lord, whose 25-year commitment to advancing NTSAD’s mission has made a lasting impact on generations of families affected by rare genetic diseases.
Our online auction is live and packed with incredible experience and items, all supporting NTSAD’s mission to fund research, advocacy initiatives, and critical family services.
Visit the Imagine & Believe website for tickets or contact Erin at EDemers@ntsad.org for more information.
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CPN In the Room: Children Have Spiritual Lives, Too. Exploring the Way Children Connect in Their World
Join CPN and chaplain and researcher Amanda Borchik, MDiv, BCC to learn about the ways children express their unique spirituality and to discuss ways that parents, caregivers and clinicians can nurture their spirit. Participating in the discussion will be parents sharing their experiences.
This live event will be held on Monday, November 10th at 8:00pm Eastern Time.
| | Holiday Reflections on Support | | |
As we approach this holiday season, we recognize how important connection truly is. We asked our rare community members what three words come to mind when they think of NTSAD. Here’s what they said.
The three most repeated words were: Support, Community, and Love.
Caring for families is the center of everything we do. We’re able to foster these relationships and continue this work because of our amazing families and donors - like you. As you can see from the information above, there is much to be excited and hopeful about in the realm of research as we strive to find effective treatments for Tay-Sachs, Canavan, GM1, and Sandhoff. As you'll read below, that support of our wonderful community of affected families and individuals has a life-long impact for them.
Esteban first started attending the NTSAD Annual Family Conference 15 years ago when his sister, Bela, was diagnosed with juvenile Tay-Sachs disease. Today, Esteban shares how growing up with the support of NTSAD helped shape the man he is today, and demonstrates his heart for service for other siblings of those coping with a diagnosis of Tay-Sachs, Canavan, GM1, or Sandhoff, and those who have lost their sibling.
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"To me, as the sibling to an affected child, NTSAD has served as an invaluable community that I can credit with being the largest reason I have been able to succeed as an adult.
As a sibling, the conference was the best holiday of the year. No where else did I ever feel accepted and understood by peers in my age group in the way that I did at the NTSAD conference. So much so, I met my lifelong friend at the conference who will inevitably be the best man in my wedding.
I feel convicted to redirect the gifts that have been given to me in the form of NTSAD. I want to guide other youth siblings like myself through the arduous situation presented to them to which very few others can relate. I want to help those whose shoes I have walked turn into the best possible version of themselves in spite of the hardships that reverberate through their hearts."
| | Meet Our Family Support Funds | | |
NTSAD manages two funds created by families to help support those coping with Tay-Sachs, Canavan, GM1, or Sandhoff. These funds provide support for respite, medical equipment, and memory making.
Benton's Family Assistance Fund provides financial assistance to families seeking to purchase necessary items and services that promote comfort, ease, and a better quality of life for affected children and adults.
Emma's Fund for Families exits to create memories for families in honor of Emma.
"Emma’s fund allowed us to make ever lasting memories with Aiden. We were able to have professional photos done that captured our boy perfectly. We will cherish them for a lifetime. Aiden loves water but sadly is no longer able to fully submerge in the bathtub. We were able to purchase a hot tub for our water loving boy and give him the joy of feeling weightless in water. We will hold onto the quiet calm nights we get to enjoy with him forever. Our time is limited but our ability to provide him with experiences is not due to some assistance from Emma’s fund." - Amanda, Aiden's Mom
Learn more about Benton's Family Assistance Fund and Emma's Fund for Families and how to apply.
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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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