Tay-Sachs disease
Information
- Disease name
- Tay-Sachs disease
- Disease ID
- DOID:3320
- Description
- "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23." [url:https\://medlineplus.gov/genetics/condition/tay-sachs-disease/, url:https\://www.genome.gov/Genetic-Disorders/Tay-Sachs-Disease, url:https\://www.ncbi.nlm.nih.gov/books/NBK1218/]
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 |
| 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 |
| NCT05109793 | Active, not recruiting | GM1 and GM2 Gangliosidosis PROspective Neurological Disease TrajectOry Study (PRONTO) | February 22, 2022 | May 30, 2026 | |
| NCT03759665 | Completed | Phase 2 | N-Acetyl-L-Leucine for GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease) | June 7, 2019 | January 9, 2023 |
| NCT01102686 | Completed | Phase 1/Phase 2 | Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease) | August 2009 | November 2010 |
| NCT00006057 | Completed | Diagnostic and Screening Study of Genetic Disorders | December 1999 | ||
| 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 | |
| NCT02254863 | Recruiting | Phase 1 | UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells | September 2014 | October 2024 |
| NCT00668187 | Recruiting | A Natural History Study of the Gangliosidoses | December 2010 | March 1, 2027 | |
| NCT04624789 | Recruiting | Registry Gangliosidoses | June 8, 2020 | June 7, 2025 | |
| NCT03333200 | Recruiting | Longitudinal Study of Neurodegenerative Disorders | January 11, 2012 | January 2035 | |
| 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:7737
- Cross Reference ID (Disease Ontology)
- ICD10CM:E75.02
- Cross Reference ID (Disease Ontology)
- MESH:D013661
- Cross Reference ID (Disease Ontology)
- MIM:272800
- Cross Reference ID (Disease Ontology)
- NCI:C85184
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:111385000
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0039373
- Exact Synonym (Disease Ontology)
- GM2 gangliosidosis, type 1
- Exact Synonym (Disease Ontology)
- hexosaminidase A deficiency
- OrphaNumber from OrphaNet (Orphanet)
- 845
- MeSH unique ID (MeSH (Medical Subject Headings))
- D013661