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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).
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| EBDR patients |
| ||
| Healthy control |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Sampling | Other | Blood sampling Skin biopsy Collection of soiled bandages |
|
| Measure | Description | 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 |
| Measure | Description | Time Frame |
|---|---|---|
| Cellular, cytokine, and lipid immunological signatures of immune cells | 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. | Up to 1 year |
| Immunogenicity and impact of WJ-MSCs and trophoblasts |
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Inclusion Criteria:
EBDR patients :
Healthy controls :
For all subjects :
Exclusion Criteria:
EBDR patients :
Healthy controls :
For all subjects:
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Patients with recessive dystrophic epidermolysis bullosa and healthy control patients
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Emmannuelle Bourrat, Pr | Contact | +33142499090 | emmanuelle.bourrat@aphp.fr | |
| Jérôme Lambert, Pr | Contact | +33142499742 | jerome.lambert@u-paris.fr |
| Name | Affiliation | Role |
|---|---|---|
| Reem Al-Daccak, Dr | Institut National de la Santé Et de la Recherche Médicale, France | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hopital Saint Louis - Service de chirurgie plastique reconstructrice et esthétique et traitement chirurgical des brûlés | Recruiting | Paris | France |
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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. |
| Up to 1 year |
| Immunogenicity and impact of EV/Ex | 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. | Up to 1 year |
| Hopital Saint Louis - service dermatologie | Recruiting | Paris | France |
|
| ID | Term |
|---|---|
| D016108 | Epidermolysis Bullosa Dystrophica |
| ID | Term |
|---|---|
| D004820 | Epidermolysis Bullosa |
| D012868 | Skin Abnormalities |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D012873 | Skin Diseases, Genetic |
| D030342 | Genetic Diseases, Inborn |
| D003095 | Collagen Diseases |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D012871 | Skin Diseases |
| D012872 | Skin Diseases, Vesiculobullous |
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