Sandhoff Disease clinical trials
The registry lists 24 studies for Sandhoff Disease across more than 10 countries. 5 are recruiting or about to start. 1 of them are mainly about Sandhoff 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) · University of Pittsburgh (1) · Dr. Anupam Sehgal (1) · Genzyme, a Sanofi Company (1) · Idorsia Pharmaceuticals Ltd. (1)
What is being tested here
Drugs under test in Sandhoff 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 |
|---|---|---|---|
| Gemfibrozil | 1 | 0 | 1 |
| Miglustat | 0 | 2 | 4 |
| 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 |
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 Sandhoff 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: 50% stop at 75 or younger and 46% at 65; 96% take children; 0% are for women only and 0% for men only; 4% 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
- Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of PLX-200 in Pediatric Patients (Master Protocol)Not yet recruitingNCT07740512Phase 2
- 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
- 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
- Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral DosesCompletedNCT00672022Phase 31 country