Epidermolysis Bullosa Dystrophica
Conditions
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).
Interventions
OTHERSampling
Blood sampling Skin biopsy Collection of soiled bandages
Sponsors
Assistance Publique - Hôpitaux de Paris
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 80 Years
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Analysis of the cellular (PBMC) and cytokine (serum) immunological signature in the peripheral blood of EBDR subjects and healthy controls. | Up to 1 year |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Cellular, cytokine, and lipid immunological signatures of immune cells | Up to 1 year | Immune cells are purified from skin biopsies and soiled dressings of EBDR patients and healthy controls. Individual data will be correlated to the severity grade of EBD. |
| Immunogenicity and impact of WJ-MSCs and trophoblasts | Up to 1 year | Immunogenicity and impact of WJ-MSCs and trophoblasts on cellular, cytokine, and lipid immunological signatures, activation, and proliferation of peripheral or cutaneous immune cells from EBDR patients and healthy controls, using in-vitro models. |
| Immunogenicity and impact of EV/Ex | Up to 1 year | Immunogenicity and impact of EV/Ex on cellular, cytokine, and lipid immunological signatures, activation, and proliferation of peripheral or cutaneous immune cells of EBDR patients and healthy controls, using in-vitro models. |
Countries
France
Contacts
Primary ContactEmmannuelle Bourrat, Pr
Backup ContactJérôme Lambert, Pr
Outcome results
None listed