Alexander disease
Information
- Disease name
- Alexander disease
- Disease ID
- DOID:4252
- Description
- "A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes." [url:http\://en.wikipedia.org/wiki/Alexander_disease, url:http\://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm, url:http\://www.omim.org/entry/203450, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/56/viewAbstract]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT02699190 | Active, not recruiting | LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies | January 6, 2017 | December 2024 | |
| NCT02714764 | Recruiting | Evaluation of Outcome Metrics in Alexander Disease | January 26, 2016 | December 2030 | |
| NCT03047369 | Recruiting | The Myelin Disorders Biorepository Project | December 8, 2016 | December 8, 2030 | |
| NCT04849741 | Recruiting | Phase 3 | A Study to Evaluate the Safety and Efficacy of ION373 in Patients With Alexander Disease (AxD) | June 1, 2021 | March 2029 |
- Disase is a (Disease Ontology)
- DOID:10579
- Cross Reference ID (Disease Ontology)
- GARD:5774
- Cross Reference ID (Disease Ontology)
- MESH:D038261
- Cross Reference ID (Disease Ontology)
- MIM:203450
- Cross Reference ID (Disease Ontology)
- NCI:C84545
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:81854007
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0270726
- Exact Synonym (Disease Ontology)
- Alexander's disease
- OrphaNumber from OrphaNet (Orphanet)
- 58
- MeSH unique ID (MeSH (Medical Subject Headings))
- D038261