Tay-Sachs Disease clinical trials
The registry lists 24 studies for Tay-Sachs Disease across more than 10 countries. 4 are recruiting or about to start. 8 of them are mainly about Tay-Sachs Disease (how this is decided). Per ClinicalTrials.gov, last updated 2026-09-03.
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Who runs them
Masonic Cancer Center, University of Minnesota (3) · University of Minnesota (3) · Terence Flotte (2) · The Hospital for Sick Children (2) · Joanne Kurtzberg, MD (1) · Idorsia Pharmaceuticals Ltd. (1) · Tehran University of Medical Sciences (1) · Azafaros B.V. (1)
What is being tested here
Drugs under test in Tay-Sachs Disease studies, those with the most open studies first. Medicines only given beside them are not counted. How drugs are counted
| Drug | Open | Phase 3 | All |
|---|---|---|---|
| Miglustat | 0 | 1 | 3 |
| Pyrimethamine | 0 | 0 | 2 |
| IB1001 | 0 | 0 | 1 |
| Busulfan | 0 | 1 | 1 |
| Cyclophosphamide | 0 | 1 | 1 |
| Antilymphocyte Serum | 0 | 1 | 1 |
| Alemtuzumab | 0 | 0 | 1 |
| Clofarabine | 0 | 0 | 1 |
| Melphalan | 0 | 0 | 1 |
| Cyclosporine | 0 | 0 | 1 |
Coming up
Studies recruiting or running, from their records. “Main data collection” ends at the primary completion date, the sponsor’s own estimate, which often moves.
All 3
- Mar 2027A Natural History Study of the Gangliosidoses · University of Minnesota
- Mar 2027First-in-Human Study of TSHA-101 Gene Therapy for Treatment of Infantile Onset GM2 Gangliosidosis · Dr. Anupam Sehgal
- Oct 2027UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells · Joanne Kurtzberg, MD
Who these studies take
Of the 4 Tay-Sachs Disease studies recruiting now, 3 (75%) set no upper age limit and 1 (25%) stop at 75 or younger. 4 (100%) take children under 18. 0 (0%) are for women only and 0 (0%) for men only; 0 (0%) take healthy volunteers.
| Age | Women | Men |
|---|---|---|
| 10 | 4 (100%) | 4 (100%) |
| 18 | 4 (100%) | 4 (100%) |
| 30 | 3 (75%) | 3 (75%) |
| 40 | 3 (75%) | 3 (75%) |
| 50 | 3 (75%) | 3 (75%) |
| 65 | 3 (75%) | 3 (75%) |
| 75 | 3 (75%) | 3 (75%) |
| 85 | 3 (75%) | 3 (75%) |
Across all 24 studies, recruiting or not: 42% stop at 75 or younger and 38% at 65; 92% take children; 0% are for women only and 0% for men only; 8% take healthy volunteers. From each study’s registry entry; the criteria on its page decide.
Studies
Recruiting first, then most recently updated. Showing 24 of 24. search them.
- UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like CellsRecruitingNCT02254863Phase 11 country
- A Natural History Study of the GangliosidosesRecruitingNCT006681871 country
- Longitudinal Study of Neurodegenerative DisordersRecruitingNCT033332001 country
- Registry GangliosidosesRecruitingNCT046247891 country
- A Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2TerminatedNCT04221451Phase 313 countries
- Long-Term Follow-Up of Subjects Treated With AXO-AAV-GM2 for Tay-Sachs or Sandhoff DiseaseActive, not recruitingNCT066145691 country
- GM1 and GM2 Gangliosidosis PROspective Neurological Disease TrajectOry Study (PRONTO)CompletedNCT051097936 countries
- Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD)TerminatedNCT03822013Phase 31 country
- A Dose-escalation and Safety & Efficacy Study of AXO-AAV-GM2 in Tay-Sachs or Sandhoff DiseaseTerminatedNCT04669535Phase 11 country
- N-Acetyl-L-Leucine for GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease)CompletedNCT03759665Phase 24 countries
- First-in-Human Study of TSHA-101 Gene Therapy for Treatment of Infantile Onset GM2 GangliosidosisActive, not recruitingNCT04798235Phase 1/21 country
- Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic DisordersTerminatedNCT01372228Phase 1/21 country
- Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2CompletedNCT0447071310 countries
- Synergistic Enteral Regimen for Treatment of the GangliosidosesTerminatedNCT02030015Phase 41 country
- HSCT for High Risk Inherited Inborn ErrorsCompletedNCT00383448Phase 21 country
- Stem Cell Transplant for Inborn Errors of MetabolismCompletedNCT00176904Phase 2/31 country
- Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal DisordersCompletedNCT01626092Not applicable1 country
- Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent.CompletedNCT01999257Not applicable1 country
- Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 GangliosidosisCompletedNCT00418847Phase 21 country
- Gene Therapy for Tay-Sachs DiseaseCompletedNCT018692701 country
- ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic DiseasesTerminatedNCT00654433Phase 31 country
- A Phase I Study of Pyrimethamine in Patients With GM2 GangliosidosisWithdrawnNCT00679744Phase 12 countries
- Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease)CompletedNCT01102686Phase 1/21 country
- Diagnostic and Screening Study of Genetic DisordersCompletedNCT000060571 country