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

NCT ID: NCT04285294

Last Updated: 2020-02-26

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

66 participants

Study Classification

OBSERVATIONAL

Study Start Date

2020-03-31

Study Completion Date

2023-12-31

Brief Summary

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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

Detailed Description

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Conditions

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Recessive Dystrophic Epidermolysis Bullosa

Study Design

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Observational Model Type

OTHER

Study Time Perspective

OTHER

Study Groups

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RDEB patients with a cSCC

No interventions assigned to this group

Non-RDEB patients with a SCC induced by ultraviolet radiation

No interventions assigned to this group

Healthy donors without RDEB nor SCC

No interventions assigned to this group

Eligibility Criteria

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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
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Central Contacts

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Emmanuel BOURRAT, Dr

Role: CONTACT

+33 1 42 49 90 90

Matthieu Resche-Rigon, Pr

Role: CONTACT

Other Identifiers

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APHP190820

Identifier Type: -

Identifier Source: org_study_id

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