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

Sponsor

Assistance Publique - Hôpitaux de Paris (Other)

Overall Status

Not yet recruiting

CT.gov ID

NCT04285294

Collaborator

(none)

Enrollment

Anticipated Duration (Months)

Study Details

Study Description

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

Condition or Disease	Intervention/Treatment	Phase
Recessive Dystrophic Epidermolysis Bullosa

Study Design

Study Type:

Observational

Anticipated Enrollment :

66 participants

Observational Model:

Other

Time Perspective:

Other

Official Title:

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

Anticipated Study Start Date :

Mar 1, 2020

Anticipated Primary Completion Date :

Dec 1, 2023

Anticipated Study Completion Date :

Dec 1, 2023

Arms and Interventions

Arm	Intervention/Treatment
RDEB patients with a cSCC
Non-RDEB patients with a SCC induced by ultraviolet radiation
Healthy donors without RDEB nor SCC

Outcome Measures

Primary Outcome Measures

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

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).
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)

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Inclusion Criteria:

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

Exclusion Criteria:

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

Contacts and Locations

Locations

No locations specified.

Sponsors and Collaborators

Assistance Publique - Hôpitaux de Paris

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

Assistance Publique - Hôpitaux de Paris

ClinicalTrials.gov Identifier:

NCT04285294

Other Study ID Numbers:

APHP190820

First Posted:

Feb 26, 2020

Last Update Posted:

Feb 26, 2020

Last Verified:

Feb 1, 2020

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Additional relevant MeSH terms:

Carcinoma, Squamous Cell

Epidermolysis Bullosa

Epidermolysis Bullosa Dystrophica

Study Results

No Results Posted as of Feb 26, 2020