GM1 gangliosidosis
Information
- Disease name
- GM1 gangliosidosis
- Disease ID
- DOID:3322
- Description
- "A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside." [url:https\://ghr.nlm.nih.gov/condition/gm1-gangliosidosis]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT05109793 | Active, not recruiting | GM1 and GM2 Gangliosidosis PROspective Neurological Disease TrajectOry Study (PRONTO) | February 22, 2022 | May 30, 2026 | |
| NCT04713475 | Active, not recruiting | Phase 1/Phase 2 | Study of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Participants With GM1 Gangliosidosis | March 17, 2021 | February 2029 |
| NCT00176904 | Completed | Phase 2/Phase 3 | Stem Cell Transplant for Inborn Errors of Metabolism | January 1995 | June 2010 |
| NCT00383448 | Completed | Phase 2 | HSCT for High Risk Inherited Inborn Errors | September 2006 | September 2014 |
| NCT04310163 | Completed | Interviews and Video Capture in Patients With GM1 Gangliosidosis | April 20, 2020 | May 5, 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 | |
| NCT05368038 | Enrolling by invitation | ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program | May 10, 2021 | July 31, 2026 | |
| NCT04624789 | Recruiting | Registry Gangliosidoses | June 8, 2020 | June 7, 2025 | |
| NCT04041102 | Recruiting | Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) Patients | June 12, 2020 | December 31, 2026 | |
| NCT00668187 | Recruiting | A Natural History Study of the Gangliosidoses | December 2010 | March 1, 2027 | |
| NCT04273269 | Terminated | Phase 1/Phase 2 | A Safety and Efficacy Study of LYS-GM101 Gene Therapy in Patients With GM1 Gangliosidosis | May 11, 2021 | May 22, 2023 |
- Disase is a (Disease Ontology)
- DOID:2368
- Cross Reference ID (Disease Ontology)
- GARD:10891
- Cross Reference ID (Disease Ontology)
- ICD10CM:E75.19
- Cross Reference ID (Disease Ontology)
- MESH:D016537
- Cross Reference ID (Disease Ontology)
- NCI:C84739
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:32917001
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0085131
- Exact Synonym (Disease Ontology)
- Beta-galactosidase deficiency
- Exact Synonym (Disease Ontology)
- deficiency of beta-galactosidase
- Exact Synonym (Disease Ontology)
- gangliosidosis GM1
- OrphaNumber from OrphaNet (Orphanet)
- 354
- MedGen concept unique identifier (MedGen Concept name)
- C0085131
- MedGen unique identifier (MedGen Concept name)
- 43107