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)

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

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).

Study Overview

• Status: Not yet recruiting
• Conditions: Epidermolysis Bullosa Dystrophica
• Intervention / Treatment: Other: Sampling

• Study Type: Observational
• Enrollment (Estimated): 30

Contacts and Locations

• Study Contact: Name: Jérôme Lambert, Pr; Phone Number: +33142499742; Email: jerome.lambert@u-paris.fr
• Study Contact Backup: Name: Emmannuelle Bourrat, Pr; Phone Number: +33142499090; Email: emmanuelle.bourrat@aphp.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Patients with recessive dystrophic epidermolysis bullosa and healthy control patients

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Healthy control	Other: Sampling; Blood sampling Skin biopsy Collection of soiled bandages
EBDR patients	Other: Sampling; Blood sampling Skin biopsy Collection of soiled bandages

What is the study measuring?

Primary Outcome Measures

Outcome 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 Outcome Measures

Outcome Measure	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	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

Collaborators and Investigators

• Sponsor: Assistance Publique - Hôpitaux de Paris
• Investigators: Study Director: Reem Al-Daccak, Dr, Institut National de la Santé Et de la Recherche Médicale, France

Study record dates

Study Major Dates

• Study Start (Estimated): March 1, 2024
• Primary Completion (Estimated): March 1, 2025
• Study Completion (Estimated): March 1, 2025

Study Registration Dates

• First Submitted: December 11, 2023
• First Submitted That Met QC Criteria: December 11, 2023
• First Posted (Actual): December 20, 2023

Study Record Updates

• Last Update Posted (Actual): February 26, 2024
• Last Update Submitted That Met QC Criteria: February 23, 2024
• Last Verified: February 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Skin Diseases; Congenital Abnormalities; Genetic Diseases, Inborn; Connective Tissue Diseases; Skin Diseases, Genetic; Skin Diseases, Vesiculobullous; Skin Abnormalities; Collagen Diseases; Epidermolysis Bullosa; Epidermolysis Bullosa Dystrophica
• Other Study ID Numbers: APHP230933

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No