GM2 gangliosidosis
Information
- Disease name
- GM2 gangliosidosis
- Disease ID
- DOID:3321
- Description
- "A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes." [url:https\://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT05758922 | Active, not recruiting | Phase 2 | Phase 2 Study Evaluating the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Oral AZ-3102 in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease | April 24, 2023 | December 2024 |
| NCT02699190 | Active, not recruiting | LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies | January 6, 2017 | December 2024 | |
| NCT02851862 | Active, not recruiting | A Natural History of Late Onset Tay-Sachs Disease | April 2016 | May 2025 | |
| 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 | |
| NCT03822013 | Recruiting | Phase 3 | Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD) | January 14, 2019 | December 30, 2024 |
| NCT03047369 | Recruiting | The Myelin Disorders Biorepository Project | December 8, 2016 | December 8, 2030 | |
| NCT00668187 | Recruiting | A Natural History Study of the Gangliosidoses | December 2010 | March 1, 2027 |
- Disase is a (Disease Ontology)
- DOID:2368
- Cross Reference ID (Disease Ontology)
- ICD10CM:E75.0
- Cross Reference ID (Disease Ontology)
- MESH:D020143
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:33316007
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0268274
- Exact Synonym (Disease Ontology)
- gangliosidosis GM2
- ICD10 preferred id (Insert disease from ICD10)
- D0003886
- ICD10 class code (Insert disease from ICD10)
- E75.0