Sandhoff disease
Information
- Disease name
- Sandhoff disease
- Disease ID
- DOID:3323
- Description
- "A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13." [url:https\://ghr.nlm.nih.gov/condition/sandhoff-disease]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT04669535 | Active, not recruiting | Phase 1 | A Dose-escalation and Safety & Efficacy Study of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease | January 15, 2021 | June 2028 |
| NCT05109793 | Active, not recruiting | GM1 and GM2 Gangliosidosis PROspective Neurological Disease TrajectOry Study (PRONTO) | February 22, 2022 | May 30, 2026 | |
| NCT04221451 | Active, not recruiting | Phase 3 | A Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2 | June 29, 2020 | February 25, 2026 |
| NCT01869270 | Completed | Gene Therapy for Tay-Sachs Disease | December 2010 | August 2014 | |
| NCT00176904 | Completed | Phase 2/Phase 3 | Stem Cell Transplant for Inborn Errors of Metabolism | January 1995 | June 2010 |
| NCT00672022 | Completed | Phase 3 | Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses | July 2004 | August 2007 |
| NCT01102686 | Completed | Phase 1/Phase 2 | Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease) | August 2009 | November 2010 |
| NCT03759665 | Completed | Phase 2 | N-Acetyl-L-Leucine for GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease) | June 7, 2019 | January 9, 2023 |
| NCT04470713 | Completed | Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2 | July 31, 2019 | October 30, 2021 | |
| NCT00668187 | Recruiting | A Natural History Study of the Gangliosidoses | December 2010 | March 1, 2027 | |
| NCT04624789 | Recruiting | Registry Gangliosidoses | June 8, 2020 | June 7, 2025 | |
| NCT02254863 | Recruiting | Phase 1 | UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells | September 2014 | October 2024 |
| NCT03333200 | Recruiting | Longitudinal Study of Neurodegenerative Disorders | January 11, 2012 | January 2035 | |
| NCT01372228 | Terminated | Phase 1/Phase 2 | Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders | April 2011 | April 2016 |
| NCT02030015 | Terminated | Phase 4 | Synergistic Enteral Regimen for Treatment of the Gangliosidoses | December 22, 2015 | July 31, 2019 |
- Disase is a (Disease Ontology)
- DOID:3321
- Cross Reference ID (Disease Ontology)
- GARD:7604
- Cross Reference ID (Disease Ontology)
- ICD10CM:E75.01
- Cross Reference ID (Disease Ontology)
- MESH:D012497
- Cross Reference ID (Disease Ontology)
- MIM:268800
- Cross Reference ID (Disease Ontology)
- NCI:C85052
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:23849003
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0036161
- Exact Synonym (Disease Ontology)
- Sandhoff Jatzkewitz disease
- OrphaNumber from OrphaNet (Orphanet)
- 796
- MeSH unique ID (MeSH (Medical Subject Headings))
- D012497