Clinical trial · Observational
Molecular Signatures of Cutaneous Squamous Cell Carcinoma During Recessive Dystrophic Epidermolysis Bullosa
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
Recessive dystrophic epidermolysis bullosa (RDEB) is a hereditary skin disease characterized by cutaneous and mucosa fragility. Blister formations and erosions, resulting in chronic wounds and dystrophic scars, lead development of aggressive cutaneous squamous cell carcinoma (cSCC) in young subjects. cSCC in RDEB patients are often recurrent and sometimes aggressive. Although fibrotic and inflammatory microenvironment plays an important role in the tumoral process, specific mechanisms in cSCC of RDEB patients are still unknown. Actually, the only treatment is a wide surgical excision with poor prognostic (80% of death after the first occurrence of cSCC). The objective of the study is to describe the molecular signatures in the cSCC in RDEB patients
Conditions
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Recessive Dystrophic Epidermolysis Bullosa | — | UNRESOLVED | — |
Interventions
Interventions (0)
Data not yet available
Design
Arms and outcomes
Arms (3)
- label
- RDEB patients with a cSCC
- label
- Non-RDEB patients with a SCC induced by ultraviolet radiation
- label
- Healthy donors without RDEB nor SCC
Primary outcomes (1)
- measure
- Characterize the molecular signatures in the cSCC and the peri-tumoral dystrophic area occurring in RDEB patients
- timeFrame
- at inclusion
- description
- Molecular signatures will be assessed by genomic, transcriptomic, and proteomic analyses
Secondary outcomes (2)
- measure
- Comparison of molecular signature according to the aggressive evolution
- timeFrame
- at inclusion
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
Show eligibility criteria text
Inclusion Criteria: * for RDEB patients with a SCC : 1. aged older than 18 years old 2. one or more SCC surgically treated 3. signed genetic consent form * for non-RDEB patients with a SCC induced by ultraviolet radiation : 1. aged older than 18 years old 2. one or more SCC induced by ultraviolet radiation 3. signed genetic consent form Exclusion Criteria: * under protection by law (tutorship or curatorship) * without health insurance coverage
References
Publications (0)
Data not yet available