junctional epidermolysis bullosa
Information
- Disease name
- junctional epidermolysis bullosa
- Disease ID
- DOID:3209
- Description
- "An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin." [url:https\://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa#genes]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03472287 | Completed | Phase 1 | To Evaluate the Pharmacokinetic of Diacerein and Rhein After Maximum Use in Patients With Epidermolysis Bullosa (EB) | May 18, 2018 | February 14, 2019 |
| NCT03526159 | Recruiting | Phase 1/Phase 2 | Gentamicin for Junctional Epidermolysis Bullosa | June 1, 2018 | August 31, 2020 |
| NCT04140786 | Recruiting | Phase 1/Phase 2 | Optimizing IV Gentamicin in JEB | October 31, 2019 | November 1, 2023 |
| NCT03490331 | Terminated | Phase 1/Phase 2 | Clinical Trial to Assess Safety and Efficacy of Autologous Cultured Epidermal Grafts Containing Epidermal Stem Cells Genetically Modified in Patients With JEB (HOLOGENE17) | March 19, 2018 | September 11, 2018 |
| NCT03578029 | Terminated | Phase 2 | Evaluation of the Safety and Efficacy Study of RGN-137 Topical Gel for Junctional and Dystrophic Epidermolysis Bullosa | May 22, 2019 | November 23, 2021 |
| NCT04727268 | Unknown status | Genotype-phenotype Correlation in Junctional Epidermolysis Bullosa | September 27, 2021 | December 30, 2021 |
- Disase is a (Disease Ontology)
- DOID:2730
- Cross Reference ID (Disease Ontology)
- GARD:2152
- Cross Reference ID (Disease Ontology)
- MESH:D016109
- Cross Reference ID (Disease Ontology)
- NCI:C90598
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:76905008
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0079301
- Exact Synonym (Disease Ontology)
- congenital junctional epidermolysis bullosa
- OrphaNumber from OrphaNet (Orphanet)
- 305