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

Recessive Dystrophic Epidermolysis Bullosa Clinical Trial

— SIMOCEB  

Official title:

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

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT04285294
• Other study ID #: APHP190820
• Status: Not yet recruiting
• Start date: March 2020
• Est. completion date: December 2023

Study information

• Verified date: February 2020
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: Emmanuel BOURRAT, Dr
• Phone: +33 1 42 49 90 90
• Email: emmanuelle.bourrat[@]aphp.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 66
• Est. completion date: December 2023
• Est. primary completion date: December 2023
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Carcinoma, Squamous Cell
• Epidermolysis Bullosa
• Epidermolysis Bullosa Dystrophica
• Recessive Dystrophic Epidermolysis Bullosa

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	Comparison of molecular signature according to the aggressive evolution	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
Secondary	Comparison of molecular signatures between cSCC from RDEB patients versus cSCC from non-RDEB patients (induced by ultraviolet radiation)	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