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

NCT04285294 | Unknown

• 1 other identifier: APHP190820
• Study Type: observational
• Target: 66
• Locations: 0 countries
• Sites: N/A

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

Conditions

Recessive Dystrophic Epidermolysis Bullosa

Outcome Measures

Primary Outcomes (1)

• Characterize the molecular signatures in the cSCC and the peri-tumoral dystrophic area occurring in RDEB patients

  Molecular signatures will be assessed by genomic, transcriptomic, and proteomic analyses

  at inclusion

Secondary Outcomes (2)

• Comparison of molecular signature according to the aggressive evolution

  at inclusion

• Comparison of molecular signatures between cSCC from RDEB patients versus cSCC from non-RDEB patients (induced by ultraviolet radiation)

  at inclusion

Study Arms (3)

RDEB patients with a cSCC

Non-RDEB patients with a SCC induced by ultraviolet radiation

Healthy donors without RDEB nor SCC

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

RDEB patients with a SCC and non-RDEB patients with a SCC induced by ultraviolet radiation

You may qualify if:

• for RDEB patients with a SCC :
• aged older than 18 years old
• one or more SCC surgically treated
• signed genetic consent form
• for non-RDEB patients with a SCC induced by ultraviolet radiation :
• aged older than 18 years old
• one or more SCC induced by ultraviolet radiation
• signed genetic consent form

You may not qualify if:

• under protection by law (tutorship or curatorship)
• without health insurance coverage

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

MeSH Terms

Conditions

Epidermolysis Bullosa Dystrophica

Condition Hierarchy (Ancestors)

Epidermolysis Bullosa; Skin Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Collagen Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Skin Diseases; Skin Diseases, Vesiculobullous

Central Study Contacts

Emmanuel BOURRAT, Dr

CONTACT

+33 1 42 49 90 90; emmanuelle.bourrat@aphp.fr

Matthieu Resche-Rigon, Pr

CONTACT

matthieu.resche-rigon@univ-paris-diderot.fr

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 24, 2020
• First Posted: February 26, 2020
• Study Start: March 1, 2020
• Primary Completion: December 1, 2023
• Study Completion: December 1, 2023
• Last Updated: February 26, 2020

Record last verified: 2020-02