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

February 24, 2020 updated by: Assistance Publique - Hôpitaux de Paris

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 Overview

Status

Not yet recruiting

Conditions

Study Type

Observational

Enrollment (Anticipated)

66

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

16 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

N/A

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

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

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Other
  • Time Perspectives: Other

Cohorts and Interventions

Group / Cohort
RDEB patients with a cSCC
Non-RDEB patients with a SCC induced by ultraviolet radiation
Healthy donors without RDEB nor SCC

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Comparison of molecular signature according to the aggressive evolution
Time Frame: 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).
at inclusion
Comparison of molecular signatures between cSCC from RDEB patients versus cSCC from non-RDEB patients (induced by ultraviolet radiation)
Time Frame: 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)
at inclusion

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Assistance Publique - Hôpitaux de Paris

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Anticipated)

March 1, 2020

Primary Completion (Anticipated)

December 1, 2023

Study Completion (Anticipated)

December 1, 2023

Study Registration Dates

First Submitted

February 24, 2020

First Submitted That Met QC Criteria

February 24, 2020

First Posted (Actual)

February 26, 2020

Study Record Updates

Last Update Posted (Actual)

February 26, 2020

Last Update Submitted That Met QC Criteria

February 24, 2020

Last Verified

February 1, 2020

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • APHP190820

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Recessive Dystrophic Epidermolysis Bullosa

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Kazakhstan

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

3
Subscribe