epidermolysis bullosa simplex
Information
- Disease name
- epidermolysis bullosa simplex
- Disease ID
- DOID:4644
- Description
- "An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin." [url:https\://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#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 |
|---|---|---|---|---|---|
| NCT05062070 | Completed | Phase 1 | Safety and Efficacy of Topical TolaSure Targeting Aggregated Mutant Keratin in Severe Epidermolysis Bullosa Simplex | May 5, 2022 | June 22, 2023 |
| NCT02592954 | Completed | Phase 1 | Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin | September 2015 | December 2016 |
| NCT02960997 | Completed | Phase 2 | Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study | May 2016 | December 1, 2021 |
| NCT03389308 | Completed | Phase 2 | Long Term Open-label Study Evaluating Safety of Diacerein 1% Ointment Topical Formulation in Subjects With Epidermolysis Bullosa Simplex | December 1, 2017 | April 17, 2020 |
| 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 |
| NCT04908215 | Completed | Phase 2 | INM-755 (Cannabinol) Cream for Treatment of Epidermolysis Bullosa | December 28, 2021 | April 19, 2023 |
| NCT03453632 | Recruiting | Phase 2/Phase 3 | Injections of Botulinic Toxin in Plantar Lesions of Localized Epidermolysis Bullosa Simplex | June 14, 2018 | December 2023 |
| NCT03269474 | Recruiting | Computational Drug Repurposing for All EBS Cases | November 28, 2017 | December 31, 2024 | |
| NCT03154333 | Terminated | Phase 2 | Safety and Efficacy of Diacerein 1% Ointment for Subjects With Epidermolysis Bullosa Simplex (EBS) | June 1, 2017 | October 31, 2018 |
| NCT02470689 | Unknown status | Phase 2 | Diacerin for the Treatment of Epidermolysis Bullosa Simplex | June 2015 | |
| NCT05033574 | Unknown status | The State of Sexual Development in Children With Inherited Epidermolysis Bullosa | December 8, 2020 | June 1, 2023 | |
| NCT04213703 | Unknown status | A Pilot Study to Explore the Role of Gut Flora in Epidermolysis Bullosa | March 2, 2020 | July 2023 | |
| NCT03016715 | Unknown status | Phase 2 | Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study | May 2016 | |
| NCT00936533 | Unknown status | Phase 2 | Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita | May 2009 | December 2012 |
- Disase is a (Disease Ontology)
- DOID:2730
- Cross Reference ID (Disease Ontology)
- GARD:10752
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q81.0
- Cross Reference ID (Disease Ontology)
- MESH:D016110
- Cross Reference ID (Disease Ontology)
- MIM:601001
- Cross Reference ID (Disease Ontology)
- MIM:615425
- Cross Reference ID (Disease Ontology)
- NCI:C84692
- Cross Reference ID (Disease Ontology)
- ORDO:304
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:205585003
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0079298
- OrphaNumber from OrphaNet (Orphanet)
- 304
- MedGen concept unique identifier (MedGen Concept name)
- C0079298
- MedGen unique identifier (MedGen Concept name)
- 86896
- ICD10 preferred id (Insert disease from ICD10)
- D0014099
- ICD10 class code (Insert disease from ICD10)
- Q81.0
- MeSH unique ID (MeSH (Medical Subject Headings))
- D016110