Study of the Blood and Skin Immunological Profile of Patients With Recessive Dystrophic Epidermolysis Bullosa: in Vivo Analysis and the Impact of Placental Stem Cells in Vitro

NCT ID: NCT06177353

Last Updated: 2024-07-17

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 30 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2024-04-15
• Study Completion Date: 2025-04-15

Brief Summary

Patients with recessive dystrophic epidermolysis bullosa (RDEB) suffer from acute and chronic post-bullous wounds along with impaired skin healing. These issues are attributed not only to mucocutaneous fragility and abnormal healing directly related to quantitative and/or qualitative constitutional abnormalities of collagen VII but also to a contingent cutaneous and systemic inflammatory component. This inflammatory aspect contributes to the perpetuation of skin lesions and delayed healing. Our primary objective is to define the systemic immunological/inflammatory signature of patients with RDEB with an aim to develop a strategy that involves using stem cells with high immunomodulatory/anti-inflammatory capacity such as allogeneic placental stem cells (WJ-MSCs and trophoblasts).

Conditions

Epidermolysis Bullosa Dystrophica

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

EBDR patients

Sampling

Intervention Type: OTHER

Blood sampling Skin biopsy Collection of soiled bandages

Healthy control

Sampling

Intervention Type: OTHER

Blood sampling Skin biopsy Collection of soiled bandages

Interventions

Sampling

Blood sampling Skin biopsy Collection of soiled bandages

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

EBDR patients :

• Patients aged 18 to 80 years old
• Clinically, histologically, and/or genetically confirmed intermediate, reversed or generalized, moderate to severe EBDR

Healthy controls :

• Adults aged 18 to 80 years old
• PBMC healthy donors: subjects who have donated blood to the EFS according to the indication criteria who have consented to the use of their samples for research purposes.
• Healthy skin biopsy donors: subjects undergoing abdominoplasty scheduled in plastic surgery and who have given their consent for the collection of a skin biopsy from post-operative abdominoplasty skin remnants.
• Healthy donors of bandages soiled with exudates from cutaneous wounds: subject consulting a plastic surgery department as part of their usual post-operative follow-up, who have given their consent for the collection of one of their dressings during their usual during their usual renewal.

For all subjects :

• Free, informed, written consent, signed by the person and the investigator no later than the day of inclusion and before any examination carried out as part of the study.
• Person affiliated or benefiting from a social security scheme

Exclusion Criteria

EBDR patients :

• EBH with no definite diagnosis or other than EBDR intermediate, reversed or generalized
• Systemic anti-inflammatory or immunosuppressive therapy for less than one month
• Refusal of skin biopsy

Healthy controls :

• Acute or chronic systemic or cutaneous inflammatory disease at the time of sampling
• Current immunosuppressive anti-inflammatory treatment in the month prior to sampling

For all subjects:

• Persons under guardianship or curatorship, or deprived of their liberty by judicial or administrative decision
• Patients receiving State Medical Aid
• Pregnant or breast-feeding women

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 80 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Reem Al-Daccak, Dr

Role: STUDY_DIRECTOR

Institut National de la Santé Et de la Recherche Médicale, France

Locations

Hopital Saint Louis - Service de chirurgie plastique reconstructrice et esthétique et traitement chirurgical des brûlés

Paris, , France

Site Status: RECRUITING

Hopital Saint Louis - service dermatologie

Paris, , France

Site Status: RECRUITING

Countries

France

Central Contacts

Emmannuelle Bourrat, Pr

Role: CONTACT

emmanuelle.bourrat@aphp.fr

+33142499090

Jérôme Lambert, Pr

Role: CONTACT

jerome.lambert@u-paris.fr

+33142499742

Facility Contacts

Maurice Mimoun, MD

Role: primary

Emmanuelle Bourrat, MD

Role: primary

Other Identifiers

APHP230933

Identifier Type: -

Identifier Source: org_study_id