Clinical trial NCT06177353: 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
Official title: Etude du Profil Immunologique Sanguin et cutané Des Patients Atteints d'épidermolyse Bulleuse Dystrophique récessive : Analyses in Vivo et Impact Des Cellules Souches Placentaires in Vitro
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Epidermolysis Bullosa Dystrophica
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2023-12-20
Enrollment: 30
Sex: ALL
Minimum age (years): 18
Maximum age (years): 80
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with recessive dystrophic epidermolysis bullosa and healthy control patients

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).


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

Primary outcomes:
measure: Analysis of the cellular (PBMC) and cytokine (serum) immunological signature in the peripheral blood of EBDR subjects and healthy controls.
timeFrame: Up to 1 year
Secondary outcomes:
measure: Cellular, cytokine, and lipid immunological signatures of immune cells
timeFrame: Up to 1 year
measure: Immunogenicity and impact of WJ-MSCs and trophoblasts
timeFrame: Up to 1 year
measure: Immunogenicity and impact of EV/Ex
timeFrame: Up to 1 year
Other outcomes:
Locations:
city: Paris
country: France
facility: Hopital Saint Louis - Service de chirurgie plastique reconstructrice et esthétique et traitement chirurgical des brûlés
city: Paris
country: France
facility: Hopital Saint Louis - service dermatologie
Study officials:
affiliation: Institut National de la Santé Et de la Recherche Médicale, France
name: Reem Al-Daccak, Dr
role: STUDY_DIRECTOR
References: