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

Assistance Publique - Hôpitaux de Paris

Status: Unknown

Conditions: Recessive Dystrophic Epidermolysis Bullosa

Study type: Observational

Funder types: Other

Identifiers

NCT04285294

APHP190820

Details and patient eligibility

About

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

Enrollment: 66 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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

Trial design

66 participants in 3 patient groups

RDEB patients with a cSCC

Non-RDEB patients with a SCC induced by ultraviolet radiation

Healthy donors without RDEB nor SCC