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Hello Friend -
As we move into the heart of summer, we close one fiscal year and begin another. While this season is often a time to slow down, rest, and recharge, NTSAD remains focused on advancing our mission and planning for an active second half of 2026.
In the months ahead, we look forward to launching our new blog series, Day of Hope, a carrier screening webinar, our first-ever Canavan Think Tank, and the annual LOTSS Think Tank. The committee for our 15th Imagine & Believe signature fundraiser is also hard at work planning what is sure to be a meaningful evening honoring Dr. Florian Eichler while raising critical funds to support NTSAD's programs and services.
As we look ahead, we also take time to reflect on and appreciate those whose leadership has helped bring us to this moment. On behalf of the entire NTSAD community, I extend our sincere gratitude to three dedicated members of NTSAD's Board of Directors whose terms recently concluded: Bonnie Davis, Jonathan Katz, and Oralea Marquardt. We thank them for their years of service, leadership, and unwavering commitment to our mission. Their contributions have strengthened our organization and positively impacted countless families. We are deeply grateful for all they have done and look forward to their continued connection with NTSAD for many years to come.
As the new fiscal year begins, we are also pleased to welcome three new Board members who officially begin their terms today, July 1: Zach Silva, Peggy Slasman, and Michael Thater. Please read more about our outgoing and incoming Board members in the article below.
As always, thank you for your continued engagement and partnership. Everything we accomplish is made possible by the dedication of our families, volunteers, researchers, healthcare providers, donors, and industry partners. This month, we renew our commitment to supporting affected individuals and families, advocating for the rare disease community, and driving research forward.
Warm regards,
| | Azafaros RAINBOW Study Results Published! | | |
The results of the RAINBOW study, a phase 2 clinical trial of nizubaglustat in GM2 gangliosidoses and Niemann–Pick type C (NPC) disease, have been published. This study assessed the safety and clinical outcomes of nizubaglustat in 13 individuals with GM2 gangliosidoses or NPC disease. Data showed a favorable safety and tolerability profile and established 9 mg as the optimal dose of nizubaglustat. In addition, nizubaglustat demonstrated encouraging clinical outcomes, including reductions in seizure frequency and disease progression. These promising results provide evidence to support the progression of their ongoing registrational phase 3 study and continued clinical development of nizubaglustat.
Read the full article in Science Direct.
| | Newly Published GM1 Biomarker Study | | |
An article has been published recently and is entitled “Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis.” This research, supported by NTSAD’s Research Initiative grant funding, describes the potential use of the biomarker H3N2b to monitor GM1 disease severity. Data show that H3N2b levels (measured in plasma, urine, and CSF) correlated with disease severity and decreased following gene therapy treatment and indicates that H3N2b may be a useful biomarker for monitoring the success of treatment in GM1.
Read the full article in PubMed on the NIH website.
| | NTSAD Recognizes Three Amazing Board Members | | |
At the past two Board meetings, the contributions of three amazing Board members were acknowledged as their terms came to an end last month.
Bonnie Davis, mom to Adam who had Tay-Sachs disease, served on the Board from 2020to 2026. During her tenure, Bonnie played a vital role in planning the Annual Family Conference Commemoration Ceremony for several years and chaired the Family Services Committee for the past three years. Her compassion, thoughtfulness, and unwavering commitment to supporting families have made a lasting impact on our community.
Jonathan Katz (not pictured) served on the Board from 2020 to 2026. We are ever grateful to his former company, Acom Healthcare, for providing in-kind creative services for several projects over the years. Jonathan chaired the Communications Committee for the past two years, and his leadership and contributions have helped strengthen NTSAD's communications efforts and broaden our reach within and beyond the rare disease community.
We also extend our deepest appreciation to Oralea Marquardt, LCSW, mom to William who had GM1 gangliosidosis, for her remarkable 10 years of service on the Board from 2016 to 2026. Throughout that time, Oralea served in numerous leadership roles, including Vice President, President, and Immediate Past President. She also represented NTSAD on a patient advocacy advisory committee for the American Society of Gene and Cell Therapy (ASGCT), contributed significantly for several years to the Annual Family Conference program planning, and served on the Family Services, Board Development, and Executive Committees. Her dedication, vision, and leadership have helped shape NTSAD during a period of tremendous growth and progress.
While we will miss these extraordinary individuals, we know they will always remain an integral part of the NTSAD heart and history.
| NTSAD Welcomes Three New Board Members | | |
Our rare disease community is honored to welcome three new individuals to the Board of Directors as of July 1. Each brings not only professional expertise but also a sincere commitment to our mission.
Zach Silva, senior manager at PwC and dad to Phillip, who passed away from Sandhoff disease in 2024, joins the Board to honor his son’s memory and support other families walking a similar path.
Peggy Slasman, a communications leader with decades of experience in hospital systems and public health, served on the Imagine & Believe Committee and as the co-chair of the Communications Committee, and now brings her talents to the Board.
Michael Thater, MBA, CPA, Executive Director and Controller at Entrada Therapeutics, has been a member of the Finance Committee for over a year, and is eager to deepen his involvement with NTSAD.
We are grateful for the passion and experience each new member brings to the Board.
| | Supporting NTSAD: Gifts, Grants, and Opportunities | | |
Join us on Saturday, September 19 for NTSAD’s 16th Annual Day of Hope, where our community will move a mile in their own way to raise awareness and critical funds for research and family support. You can walk, run, stroll, bike, or dance – do it solo, or gather your friends, family, or team to join you. No matter how you move, you’re moving hope forward.
There are so many ways to get involved:
- Create your own personalized fundraising page with NTSAD
- Support with a Day of Hope t-shirt (you can create your own custom tee or choose an NTSAD-branded tee)
- Request a Fundraising Toolkit to get started, brainstorm your fundraiser, and learn simple tips and tricks
- Already started planning? Tell us about your event!
Reach out to our Development Manager, Erin, at edemers@ntsad.org to learn more or get started!
| | Join us for Imagine & Believe 2026! | |
Join us on Thursday, November 12, at the Hyatt Regency Boston/Cambridge our annual signature fundraiser, Imagine & Believe.
Funds raised through Imagine & Believe directly support essential family services, groundbreaking research, and advocacy efforts. This year, we’ll be honoring Dr. Florian Eichler, who has been a trusted partner, advocate, and leader within the NTSAD community for more than two decades.
Visit our website to get your tickets, explore sponsorship opportunities, or learn more about our honoree!
| Register New for Rare Across America | | |
Rare Across America 2026 is the opportunity to share your story with your members of Congress virtually or at their in-district offices to educate them on the issues that are most important to the rare community. Registration closes on July 17.
Register here for Rare Across America, today!
| | Upcoming Webinar: SitNStand for NTSAD | | |
Join us on Thursday, July 23, at 4:00 PM EDT for an engaging and informative webinar with SitNStand focused on creating safer, more supportive movement in any environment.
This session may be especially helpful for affected adults anticipating or navigating changes in mobility or caregivers supporting loved ones who still participate in sit-to-stand movements.
We’ll explore simple strategies to improve safety while sitting, standing, and moving, and how assistive technologies like portable lift solutions can support comfort and reduce caregiver strain.
Click here to register today!
| | NORD Support: Understanding Medicaid Changes | | |
NORD's recent PAO webinar focused on understanding the upcoming changes to the Medicaid program set forth in the 2025 federal budget reconciliation law, referred to as the One Big Beautiful Bill Act (OBBBA), or H.R. 1. The webinar highlighted the new work requirements that will be implemented as of 2027. There are a wide variety of exemptions to the new requirement, including children, those with condition labeled as “medically fragile,” and their caregivers.
You can view the full explanation of changes to the work requirements and exemptions affecting Medicaid in 2027 in this pdf compiled by NORD.
| | Congratulations Are in Order! | | |
Becky Benson, mom to Miss Elliott and a long‑time, deeply valued member of the NTSAD community and our Family Services team, has been promoted to Director of Family Support.
In her expanded role, Becky will lead all engagement with individuals and families affected by every onset of Tay‑Sachs, Canavan, GM1, or Sandhoff diseases. Her compassion, expertise, and unwavering dedication to our mission have already made her an extraordinary resource for our community, and we are thrilled that her impact will continue to grow.
Please join us in congratulating Becky on this well‑deserved achievement!
| | Connecting Families, Providing Support – Country to Country | | |
This month’s Mission Moment comes in the form of connection that spans the continents. One of NTSAD’s partners reached out searching for a specific piece of equipment for a family living in Iraq whose child has Canavan disease.
Thanks to the community effort, Arlo Fellenz stepped in to offer her support through her Ashtyn’s Hope Canavan Disease Fund, which operates to, “help children with Canavan have a better quality of life,” in memory of her daughter, Ashtyn, who also had Canavan Disease. Arlo provided the much-needed equipment and coordinated shipping ti to the family in Iraq with generous support from an NTSAD partner.
Pictured is Arlo with her daughter, Ashtyn.
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Staff
Kathy Flynn, CEO
Becky Benson, Director of Family Support
Erin Demers, Development Manager
Valerie Greger, PhD, Research Director
Cynthia Perreault-Micale, PhD, Research Manager
Adie Woolf, Development Assistant
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