Brief Title
Molecular Signatures of Cutaneous Squamous Cell Carcinoma During Recessive Dystrophic Epidermolysis Bullosa
Official Title
Molecular Signatures of Cutaneous Squamous Cell Carcinoma During Recessive Dystrophic Epidermolysis Bullosa
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
Study Type
Observational
Primary Outcome
Characterize the molecular signatures in the cSCC and the peri-tumoral dystrophic area occurring in RDEB patients
Secondary Outcome
Comparison of molecular signature according to the aggressive evolution
Condition
Recessive Dystrophic Epidermolysis Bullosa
Study Arms / Comparison Groups
RDEB patients with a cSCC
Description:
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Estimated Enrollment
66
Start Date
March 2020
Completion Date
December 2023
Primary Completion Date
December 2023
Eligibility Criteria
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
Gender
All
Ages
18 Years - N/A
Contacts
, +33 1 42 49 90 90, [email protected]
Administrative Informations
NCT ID
NCT04285294
Organization ID
APHP190820
Responsible Party
Sponsor
Study Sponsor
Assistance Publique - Hôpitaux de Paris
Study Sponsor
, ,
Verification Date
February 2020