RecruitingNCT07700966
Dermatological
Recessive Dystrophic Epidermolysis Bullosa
Also known as RDEB, severe generalized RDEB, COL7A1 dystrophic EB
Recessive dystrophic epidermolysis bullosa is a severe, life-limiting inherited blistering disorder caused by biallelic loss-of-function mutations in COL7A1, encoding type VII collagen — the primary structural component of anchoring fibrils
9
studies recruiting now
as of 7 Sept 2026
56
studies registered in total
as of 7 Sept 2026
3
countries with a recruiting site
as of 7 Sept 2026
14 Jul 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 1 / Phase 2NCT06834035
Targeting Collagen VII Antibodies With IV IgG in Dystrophic Epidermolysis Bullosa
RecruitingNCT01019148
Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa
RecruitingPhase 2NCT06731933
Impact of COL7A1 Gene Therapy on SCC Recurrence in RDEB Skin
RecruitingPhase 1 / Phase 2NCT07193134
GMEB-SASS: A Gene-Modified Skin Substitute for RDEB Treatment
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 9 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Recessive Dystrophic Epidermolysis Bullosa
Recessive dystrophic epidermolysis bullosa is a severe, life-limiting inherited blistering disorder caused by biallelic loss-of-function mutations in COL7A1, encoding type VII collagen — the primary structural component of anchoring fibrils at the dermal-epidermal junction. Absence or severe reduction of anchoring fibrils renders the skin and mucous membranes extraordinarily fragile, resulting in blistering and wounding from minimal mechanical trauma. Chronic wounds, pseudosyndactyly, oesophageal strictures, and a markedly elevated risk of aggressive squamous cell carcinoma constitute the major disease burden and determine prognosis.
Common clinical features
Generalised blistering from birth in response to minimal friction or trauma, affecting all body surfacesChronic wounds and scarring leading to progressive pseudosyndactyly (mitten-hand deformity) of hands and feetOesophageal blistering and strictures causing severe dysphagia, malnutrition, and failure to thriveAnaemia of chronic disease from persistent open wounds and poor nutritional absorptionCorneal erosions and eye involvement causing photophobia and visual impairmentDental enamel hypoplasia and extensive dental caries from oral mucosal fragilityMarkedly elevated risk of aggressive, metastatic cutaneous squamous cell carcinoma, the leading cause of death in adults
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
5 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 3Dabocemagene Autoficel
Phase 1/2Sodium Chloride (Aqsia (balanced salt soln))
Phase 1/2Gentamicin
Phase 1/2Gentamicin Sulfate (Apogen)
Phase 1 (early)Rigosertib Sodium (Estybon)
Before you apply
Things trial teams commonly ask about for Recessive Dystrophic Epidermolysis Bullosa. Not eligibility rules; those are set by each study.
- Gene therapy and cell therapy trials for RDEB typically require biallelic COL7A1 pathogenic variant confirmation; submit sequencing reports showing both variants with their predicted functional consequences.
- SCC screening status is a critical safety eligibility factor — ensure current full-body dermatological examination and, where indicated, imaging or biopsy results are available at screening.
- Nutritional status (serum albumin, body weight, EB-specific nutritional assessment) is a standard baseline measure and may affect eligibility for interventional trials; address nutritional deficiencies before screening where possible.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).