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 (ISTRADEB)

Assistance Publique - Hôpitaux de Paris

Status

Enrolling

Conditions

Epidermolysis Bullosa Dystrophica

Treatments

Other: Sampling

Study type

Observational

Funder types

Other

Identifiers

NCT06177353

APHP230933

Details and patient eligibility

About

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).

Enrollment

30 estimated patients

Sex

All

Ages

18 to 80 years old

Volunteers

Accepts Healthy Volunteers

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