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: 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
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
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
pdf Trial brochure here (423 KB)
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
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