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

Clinical Trials

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

Aspa Therapeutics (Recruiting)
A Study of AAV9 Gene Therapy in Participants With Canavan Disease
CANaspire 
Clinical Trial #NCT04998396

Myrtelle LLC, Gene Therapy (Recruiting by Invitation)
rAAV-Olig001-ASPA Gene Therapy for Treatment of Children With Typical Canavan Disease (CAN-GT)
Learn more here.
Clinical Trial #NCT04833907


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 

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

National Human Genome Research Institute (NHGRI)  
A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis
Learn more here.
Clinical Trial #NCT03952637

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

Trial brochure (English)

Trial brochure (Spanish)


GM1 Gangliosidosis: Natural History Studies

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.

PRONTO - Azafaros
A natural history study of GM1 and GM2 (Sandhoff and Tay-Sachs)
Clinical Trial #NCT05109793

Data about the progression of neurological manifestations in the late-infantile or juvenile onset forms of GM1 and GM2 is limited to single patient case reports and small case studies. Taking part in a Natural History study will help collect data in a systematic way, with measurements harmonies between the participating centers. These studies will help in the design of future studies with new future treatments in a more rigorous scientific way.

View video about the study here in either Brazilian Portgueses, French, German, Italian, English (UK), English (United States).


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

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

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

Sanofi Genzyme (closed)
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

University of Massachusetts Medical School (recruiting)
A Dose-escalation and Safety & Efficacy Study of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease
Clinical Trial #NCT04669535


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

PRONTO - Azafaros
A natural history study of GM1 and GM2 (Sandhoff and Tay-Sachs)
Clinical Trial #NCT05109793

Data about the progression of neurological manifestations in the late-infantile or juvenile onset forms of GM1 and GM2 is limited to single patient case reports and small case studies. Taking part in a Natural History study will help collect data in a systematic way, with measurements harmonies between the participating centers. These studies will help in the design of future studies with new future treatments in a more rigorous scientific way.

View video about the study here in either Brazilian Portgueses, French, German, Italian, English (UK), English (United States).

 

Other Resources

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

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