Leading the worldwide fight to treat and cure
Tay-Sachs, Canavan, GM1 and Sandhoff diseases

News Blog

FDA Approves Investigational Drug for Late Onset GM2

BREAKING NEWS: Clinical Trial Announced

After several years of collaboration and partnership at our annual family conferences - and many phone and in-person meetings with Sanofi Genzyme - we are very pleased to announce that the FDA approved the Investigational New Drug (IND) application submitted by Sanofi Genzyme for Venglustat.

Venglustat is a small molecule therapy for the Late Onset GM2 Gangliosidosis population.

In addition to the Late Onset GM2 study, there will also be a secondary arm of the study for Juvenile Onset GM1 and GM2 gangliosidosis and other rare disorders including saposin C deficiency, sialidosis type 1 and juvenile/adult galactosidosis.

The study is not yet recruiting as they are waiting for IRB approval at the clinical trial sites. Those will be announced as soon as we learn that they are officially open for recruitment.

For More Information

A Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2 (AMETHIST) - Click here to read the full posting on clinicaltrials.gov.

Please contact This email address is being protected from spambots. You need JavaScript enabled to view it. at NTSAD with your questions.

New FAQ on Clinical Trials

What Clinical Trials are open? How do they work? What are the risks? NTSAD realizes there will be many questions regarding clinical trials in general, as well as specific questions related to the trials for the diseases that impact families. Read Clinical Trial FAQ


Juvenile GM1 Trial Open

Gene Therapy trial now enrolling children ages 2-12 with type II GM1 gangliosidosis. The study is to determine if a gene therapy can help the body to make an enzyme. Read details at ClinicalTrials.gov

NTSAD Webinars

NTSAD's webinar series brings the experts to the community to discuss topics ranging from research advances to issues that impact the family.

Recognizing Seizures

Dr. Jeffrey Buchhalter, a neurologist NTSAD connected to through the Child Neurology Foundation, met with a group of families to discuss seizures, what they are, how they can present, and the issues related to them.

Moderated by Becky Benson, NTSAD Family Services Manager

*Families in this video gave permission to be recorded and have their questions shared publicly.

Choosing Resiliency in the Face of Adversity

Sheryl Sandberg, Facebook COO, founder of Lean In, and co-author of Option B: Facing Adversity, Building Resilience, and Finding Joy, joined Blyth Lord, Founder of Courageous Parents Network, in a conversation about the challenges they faced and what they learned following unexpected, life-altering situations. Sheryl and Blyth along with Becky Benson, NTSAD's Family Services and Conference Coordinator and mom to Miss Elliott, discussed anticipatory grief, the importance of being mindful of things that bring you joy even during hard times, and leveraging post-traumatic growth.
More than 200 people participated in this poignant and inspiring conversation filled with personal stories and examples of how to build resiliency and support others through difficult experiences.





COVID-19 and its impact on
the rare disease community


Staci Kallish, DO
Cynthia Tifft, MD, PhD
Camilo Toro, MD 

Dr. Kallish, Dr. Tifft and Dr. Toro will discuss and answer questions
about how COVID-19 impacts the lives of children and adults
affected by rare diseases.



Who is the FDA and what do they do?


Curtis Scribner, MD
Independent Biotech Pharma
Regulatory and Clinical Consultant

The goal of this webinar is to inform the NTSAD community
about the regulatory side of clinical trials. We are grateful
to Dr. Curt Scribner for lending his time and sharing his expertise
with the NTSAD community to shed light on the what,
how and why behind the process of a clinical trial's approval.



What is a Clinical Trial: Demystifying the Process


Gerald Cox, MD, PhD
NTSAD Board Member
Boston Children's Hospital

What is a clinical trial and what do they involve?
What are the different types of clinical trials?
Who oversees clinical trials?
FDA oversees each step of the drug development
How do I know if I or my child is eligible for a clinical trial?
How much does it cost to participate in a clinical trial?

Glossary of Terms here.

IntraBio and IB1001 Clinical Trials 


Taylor Fields, Senior VP, IntraBio
Tatiana Bremova, MD, PhD, University Hospital Bern, Switzerland

A presentation about IntraBio's compound, IB1001, the clinical trials in the US and Europe, and the hope
that it has a positive impact on the GM2 Gangliosidoses (Tay-Sachs and Sandhoff).
Facilitated by Staci Kallish, DO, NTSAD Board president.

pdf Acetyl-DL-leucine in Niemann-Pick (Type C) - paper (587 KB)

pdf Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C  - paper (2.91 MB)

Watch the webinar here


Is there a particular topic you'd like to see discussed in a webinar format? Feel free to send an email to NTSAD This email address is being protected from spambots. You need JavaScript enabled to view it..

Is there a particular topic you'd like to see discussed in a webinar format? Feel free to send an email to NTSAD This email address is being protected from spambots. You need JavaScript enabled to view it..