epidermolysis bullosa dystrophica

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Information
Disease name
epidermolysis bullosa dystrophica
Disease ID
DOID:4959
Description
"An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen." [url:https\://ghr.nlm.nih.gov/condition/dystrophic-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
NCT05843994 Active, not recruiting Artificial Intelligence Patient App for RDEB SCCs February 13, 2023 June 30, 2024
NCT04171661 Active, not recruiting Early Phase 1 Self-Assembled Skin Substitute for the Treatment of Epidermolysis Bullosa December 10, 2019 December 10, 2024
NCT00951964 Completed Phase 2 Treatment of Epidermolysis Bullosa Dystrophica by Polyphenon E (Epigallocatechin 3 Gallate) October 2010 July 2013
NCT01263379 Completed Phase 1/Phase 2 Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa October 5, 2010 March 9, 2022
NCT01716169 Completed N/A Treatment of Chronic and Non-Chronic Wounds in Patients With Recessive Dystrophic Epidermolysis Bullosa Using Helicoll Collagen Dressings Versus Standard of Care October 2012 November 2013
NCT03241628 Completed Proof of Concept Study for a Dressing Glove May 3, 2017 January 31, 2018
NCT00904163 Completed Characteristics of Adult Patients With Recessive Dystrophic Epidermolysis Bullosa April 2009 May 2014
NCT04908215 Completed Phase 2 INM-755 (Cannabinol) Cream for Treatment of Epidermolysis Bullosa December 28, 2021 April 19, 2023
NCT06177353 Not yet recruiting Study of the Blood and Skin Immunological Profile of Patients With Recessive Dystrophic Epidermolysis Bullosa: in Vivo Analysis and the Impact of Placental Stem Cells in Vitro March 1, 2024 March 1, 2025
NCT03786237 Recruiting Phase 1/Phase 2 Rigosertib for RDEB-SCC April 12, 2021 June 2026
NCT01019148 Recruiting Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa November 10, 2009 December 31, 2025
NCT03269474 Recruiting Computational Drug Repurposing for All EBS Cases November 28, 2017 December 31, 2024
NCT06007235 Recruiting N/A CACIPLIQ20 in Wound Healing in Subjects With Epidermolysis Bullosa January 29, 2024 September 2024
NCT00533572 Terminated Recessive Dystrophic Epidermolysis Bullosa Screening for Possible Gene Transfer August 2007 August 2008
NCT00587223 Terminated Phase 3 Safety and Efficacy of Apligraf in Nonhealing Wounds of Subjects With Junctional or Dystrophic Epidermolysis Bullosa (EB) December 2007 December 2008
NCT05033574 Unknown status The State of Sexual Development in Children With Inherited Epidermolysis Bullosa December 8, 2020 June 1, 2023
NCT05390073 Unknown status Growth Hormone in EB May 25, 2022 June 15, 2022
NCT04213703 Unknown status A Pilot Study to Explore the Role of Gut Flora in Epidermolysis Bullosa March 2, 2020 July 2023
Disase is a (Disease Ontology)
DOID:2730
Cross Reference ID (Disease Ontology)
GARD:2150
Cross Reference ID (Disease Ontology)
ICD10CM:Q81.2
Cross Reference ID (Disease Ontology)
MESH:D016108
Cross Reference ID (Disease Ontology)
NCI:C84691
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:254185007
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0079294
Exact Synonym (Disease Ontology)
Dystrophic epidermolysis bullosa
ICD10 preferred id (Insert disease from ICD10)
D0014101
ICD10 class code (Insert disease from ICD10)
Q81.2
MeSH unique ID (MeSH (Medical Subject Headings))
D016108