recessive dystrophic epidermolysis bullosa
Information
- Disease name
- recessive dystrophic epidermolysis bullosa
- Disease ID
- DOID:0060642
- Description
- "An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21." [url:https\://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa, url:https\://www.ncbi.nlm.nih.gov/pubmed/3307723, url:https\://www.ncbi.nlm.nih.gov/pubmed/8513326]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT04213261 | Active, not recruiting | Phase 3 | A Study of FCX-007 for Recessive Dystrophic Epidermolysis Bullosa | June 9, 2020 | July 2037 |
| NCT04491604 | Completed | Phase 3 | Ph 3 Efficacy and Safety of B-VEC for the Treatment of DEB | August 17, 2020 | January 14, 2022 |
| NCT04520022 | Completed | Phase 1/Phase 2 | Safety and Effectiveness Study of Allogeneic Umbilical Cord Blood-derived Mesenchymal Stem Cell in Patients With RDEB | October 13, 2016 | January 10, 2020 |
| NCT02698735 | Completed | Phase 1/Phase 2 | Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients | February 25, 2016 | June 30, 2017 |
| NCT04917874 | Completed | Phase 3 | A Long-term Treatment With B-VEC for Dystrophic Epidermolysis Bullosa | May 25, 2021 | July 31, 2023 |
| NCT03012191 | Completed | Phase 1/Phase 2 | Gentamicin for RDEB | February 2, 2017 | August 31, 2018 |
| NCT05143190 | Completed | Phase 2 | Extension Study to PTR-01-002 (A Study in Recessive Dystrophic Epidermolysis Bullosa (RDEB) Patients Previously Treated With PTR-01) | December 2, 2021 | August 9, 2022 |
| NCT03529877 | Completed | Phase 1/Phase 2 | Allogeneic ABCB5-positive Stem Cells for Treatment of Epidermolysis Bullosa | February 16, 2019 | November 26, 2021 |
| NCT03752905 | Completed | Phase 1/Phase 2 | A Phase 1/2 Trial of PTR-01 in Adult Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) | January 9, 2019 | November 30, 2020 |
| NCT02493816 | Completed | Phase 1 | Safety Study of Gene-modified Autologous Fibroblasts in Recessive Dystrophic Epidermolysis Bullosa | September 2015 | March 2018 |
| NCT04599881 | Completed | Phase 2 | A Study of PTR-01 in Recessive Dystrophic Epidermolysis Bullosa | October 15, 2020 | September 1, 2021 |
| NCT04227106 | Completed | Phase 3 | Phase 3, Open-label Clinical Trial of EB-101 for the Treatment of Recessive Dystrophic Epidermolysis Bullosa (RDEB) | January 10, 2020 | October 18, 2022 |
| NCT05944250 | Recruiting | N/A | A Pilot Study to Evaluate a Temporary Skin Substitute (Spincare® Matrix) for Wound Healing in RDEB Patients | November 2023 | December 2026 |
| NCT03392909 | Recruiting | Phase 1/Phase 2 | Intravenous Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) | July 5, 2018 | December 1, 2023 |
| NCT04177498 | Recruiting | Early Phase 1 | Rigosertib in Patients With Recessive Dystrophic Epidermolysis Bullosa Associated SCC | August 24, 2021 | June 1, 2025 |
| NCT04917887 | Recruiting | Long-Term Follow-up Protocol | May 25, 2021 | May 25, 2028 | |
| NCT05725018 | Recruiting | Phase 3 | EB-101 Treatment for New and Previously Treated Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) | April 2, 2023 | December 1, 2024 |
| NCT02984085 | 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 RDEB. | January 30, 2017 | August 6, 2018 |
| NCT01874769 | Unknown status | Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) | June 2013 | June 2015 | |
| NCT02323789 | Unknown status | Phase 1/Phase 2 | Mesenchymal Stromal Cells in Adults With Recessive Dystrophic Epidermolysis Bullosa | June 2015 | July 2017 |
| NCT04285294 | Unknown status | Molecular Signatures of Cutaneous Squamous Cell Carcinoma During Recessive Dystrophic Epidermolysis Bullosa | March 2020 | December 2023 |
- Disase is a (Disease Ontology)
- DOID:4959
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q81.2
- Cross Reference ID (Disease Ontology)
- MIM:226600
- Cross Reference ID (Disease Ontology)
- ORDO:79408
- Exact Synonym (Disease Ontology)
- autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
- Exact Synonym (Disease Ontology)
- autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
- Exact Synonym (Disease Ontology)
- RDEB, Hallopeau-Siemens type
- Disase Synonym (Disease Ontology)
- severe generalized RDEB
- Disase Synonym (Disease Ontology)
- severe generalized recessive dystrophic epidermolysis bullosa
- MedGen concept unique identifier (MedGen Concept name)
- C0079474
- MedGen unique identifier (MedGen Concept name)
- 36311