Wolfram syndrome
Information
- Disease name
- Wolfram syndrome
- Disease ID
- DOID:10632
- Description
- "A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness." [url:http\://en.wikipedia.org/wiki/Wolfram_syndrome]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| WFS1 | 4 | 6,269,850 | 6,303,265 | 104 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03717909 | Active, not recruiting | Phase 2 | Efficacy and Safety Trial of Sodium Valproate, in Paediatric and Adult Patients With Wolfram Syndrome | December 28, 2018 | November 15, 2024 |
| NCT05676034 | Active, not recruiting | Phase 2 | AMX0035 in Adult Patients With Wolfram Syndrome | March 3, 2023 | January 30, 2026 |
| NCT02455414 | Completed | Tracking Neurodegeneration in Early Wolfram Syndrome | April 2012 | July 12, 2017 | |
| NCT02829268 | Completed | Phase 1/Phase 2 | A Clinical Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram Syndrome | January 2017 | February 2023 |
| NCT03951298 | Enrolling by invitation | I-Tracking Neurodegeneration in Early Wolfram Syndrome | August 10, 2018 | June 30, 2024 | |
| NCT03988764 | Recruiting | Monogenic Diabetes Misdiagnosed as Type 1 | September 24, 2019 | December 31, 2025 | |
| NCT04940572 | Recruiting | Phase 2 | Efficacy Study of Daily Administration of VPA in Patients Affected by Wolfram Syndrome | November 26, 2021 | December 1, 2025 |
| NCT05659368 | Recruiting | Phase 2 | Tirzepatide Monotherapy in Patients With Wolfram Syndrome Type 1 | January 1, 2024 | December 2024 |
| NCT02841553 | Recruiting | Wolfram Syndrome and WFS1-related Disorders International Registry and Clinical Study | July 2011 | April 2026 | |
| NCT01302327 | Withdrawn | N/A | GLP Analogs for Diabetes in Wolfram Syndrome Patients | March 1, 2011 | March 1, 2013 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:7898
- Cross Reference ID (Disease Ontology)
- MESH:D014929
- Cross Reference ID (Disease Ontology)
- NCI:C35133
- Cross Reference ID (Disease Ontology)
- ORDO:3463
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:70694009
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0043207
- Exact Synonym (Disease Ontology)
- WFS
- OrphaNumber from OrphaNet (Orphanet)
- 3463
- MeSH unique ID (MeSH (Medical Subject Headings))
- D014929