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

Clinical Trials (Current)

The Center for Information and Study on Clinical Research Participation (CISCRP) defines a clinical trial as, "a research study in human volunteers to answer specific health questions. Carefully conducted clinical trials are the fastest and safest way to find treatments that work in people and ways to improve health. Interventional trials determine whether experimental treatments or new ways of using known therapies are safe and effective under controlled environments. Observational trials address health issues in large groups of people or populations in natural settings." 

The decision to participate in a clinical trial is a personal and private decision. NTSAD supports families in all their care choices. Our role is to provide families with the tools and resources to make informed decisions that they can live with and that are right for their family.

Click here to read more about Evaluating Experimental Therapies - US and Abroad.

Canavan: Clinical Trials

Canavan: Natural History Studies

GM1 Gangliosidosis: Clinical Trials

GM1 Gangliosidosis: Natural History Studies

GM2 (Tay-Sachs, Sandhoff): Clinical Trials

GM2 (Tay-Sachs, Sandhoff): Natural History Studies


Canavan Disease: Clinical Trials

ENROLLING - Aspa Therapeutics Gene Therapy Program, CANaspire, is recruiting. Learn more here.

ENROLLING - Myrtelle LLC, Gene Therapy at Dayton Children's Hospital, Ohio. Learn more here.

Canavan Disease: Natural History Studies 

ONGOING - Natural History Study of Patients With Canavan Disease, CANinform (sponsored by Aspa Therapeutics)
CANInform, the Canavan disease natural history study, will be the first multinational effort to rigorously gather both retrospective and prospective data from this patient population. Data collection will include extraction of retrospective data from medical records of living patients and deceased patients, and collection of prospective, longitudinal data from living patients and their parent(s)/caregiver(s). Motor function assessments will be performed in the home by qualified study team members. In addition, families will be invited to attend clinic visits or will be followed by the clinical site remotely for up to 3 years. 


GM1 Gangliosidosis: Clinical Trials 

Sio Gene Therapies / National Human Genome Research Institute (NHGRI) (Recruiting)
A Phase 1/2 Study of IV Gene Transfer with AAV9 Vector in Type I and Type II GM1 Gangliosidosis
Clinical trial #NCT03952637

Lysogene (Recruiting)
A Safety & Efficacy Study of LYS-GM101
Clinical Trial #NCT04273269

Passage Bio (Recruiting)
Study of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Subjects With GM1 Gangliosidosis (Imagine-1)
Clinical Trial #NCT04713475


GM1 Gangliosidosis: Natural History Studies

Idorsia (Recruiting)
Natural History Study for Pediatric Patients with Early Onset of either GM1 Gangliosidosis, GM2 Gangliosidosis, or Gaucher Disease Type II
Clinical Trial #NCT04470713

Lysogene (Recruiting)
Interviews and Video Capture in Patients with GM1 (Casimir)
Clinical Trial #NCT04310163

National Human Genome Research Institute (NHGRI) (Recruiting)
Nervous System Degeneration of Glycosphingolipid Storage Disorders

The study will evaluate children with glycosphingolipid (GSL) storage disorders to investigate brain changes that cause nervous system degeneration. Patients of any age with Tay-Sachs, Sandhoff, GM1 Gangliosidosis or type 2 Gaucher may be eligible.

Inclusion criteria: Individuals greater than 6 months of age with GM1 or GM2 gangliosidosis documented by enzyme deficiency and/or mutation analysis in a CLIA-approved laboratory

Passage Bio / UPenn Orphan Disease Center (Recruiting)
Natural History Study of Infantile & Juvenile GM1 Patients
Clinical Trial #NCT04041102

A natural history data set to assess disease progression, particularly in the infantile population, and to explore potential efficacy endpoints and biomarkers for future clinical trials would benefit both the scientific and patient communities.


GM2 Gangliosidosis (Tay-Sachs and Sandhoff): Clinical Trials

IntraBio (closed)
N-Acetyl-L-Leucine for GM2 Gangliosidosis
Clinical Trial #NCT03759665

Queen's University (Taysha) - (recruiting)
First-in-Human Study of TSHA-101 Gene Therapy for Treatment of Infantile Onset GM2 Gangliosidosis
Clinical Trial #NCT04798235

Queens site

pdf Trial brochure here (423 KB)

Sanofi Genzyme (recruiting)
A Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2 (AMETHIST)
Clinical Trial #NCT04221451

Sio Gene Therapies (recruiting)
The AXO-GM2-001 study is an open-label, two-stage clinical trial designed to evaluate safety and dose-escalation (Stage 1) and safety and efficacy (Stage 2) of a bilateral thalamic and intracisternal/intrathecal infusion of AXO-AAV-GM2 in pediatric participants with GM2 Gangliosidosis (also known as Tay-Sachs or Sandhoff Diseases).
Clinical Trial #NCT04669535

pdf Trial FAQ here (1.10 MB)


GM2 Gangliosidosis (Tay-Sachs and Sandhoff): Natural History Studies

Idorsia (Recruiting)
Natural History Study for Pediatric Patients with Early Onset of either GM1 Gangliosidosis, GM2 Gangliosidosis, or Gaucher Disease Type II
Clinical Trial #NCT04470713

 

Other Resources

FAQ About Clinical Trials at clinicaltrials.gov
Clinical Trials at clinicaltrials.gov
Food and Drug Administration at fda.gov

An Understanding

Courageous Parents Network has a guided pathway about clinical trials with helpful videos addressing what to expect, how to navigate and process the news whether a trial is a fit for your family or not. 

If you have questions that are not answered here, please reach out to NTSAD's Family Services team here.

Balancing Hope and Expectation

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