Molecular Signatures of Cutaneous Squamous Cell Carcinoma During Recessive Dystrophic Epidermolysis Bullosa

• Conditions: Recessive Dystrophic Epidermolysis Bullosa

• Registration Number: NCT04285294
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

Brief Summary

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

Detailed Description

Not available

Study Timeline

• Status Verified: 2020-02
• Study First Submitted: 2020-02-24
• Study First Submitted QC: 2020-02-24
• Last Update Submitted: 2020-02-24
• Study First Posted: 2020-02-26
• Last Update Posted: 2020-02-26
• Study Start: 2020-03
• Primary Completion: 2023-12
• Study Completion: 2023-12

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 66

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Characterize the molecular signatures in the cSCC and the peri-tumoral dystrophic area occurring in RDEB patients	at inclusion	Molecular signatures will be assessed by genomic, transcriptomic, and proteomic analyses

Secondary Outcome Measures

Name	Time	Method
Comparison of molecular signatures between cSCC from RDEB patients versus cSCC from non-RDEB patients (induced by ultraviolet radiation)	at inclusion	Molecular signatures will be assessed by genomic, transcriptomic, and proteomic analyses and will be compared between cSCC from RDEB patients versus cSCC from non-RDEB patients (induced by ultraviolet radiation)
Comparison of molecular signature according to the aggressive evolution	at inclusion	Molecular signatures will be assessed by genomic, transcriptomic, proteomic analyses and will be compared between RDEB patients with different clinical outcomes (cSCC with an aggressive and metastatic evolution versus cSCC without aggressive evolution at 3 months).