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

NCT06177353 | Recruiting

• 1 other identifier: APHP230933
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 2

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).

Conditions

Epidermolysis Bullosa Dystrophica

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (3)

• Cellular, cytokine, and lipid immunological signatures of immune cells

  Up to 1 year

• Immunogenicity and impact of WJ-MSCs and trophoblasts

  Up to 1 year

• Immunogenicity and impact of EV/Ex

  Up to 1 year

Study Arms (2)

EBDR patients

Other: Sampling

Healthy control

Other: Sampling

Interventions

Sampling OTHER

Blood sampling Skin biopsy Collection of soiled bandages

EBDR patients; Healthy control

Eligibility Criteria

• Age: 18 Years - 80 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with recessive dystrophic epidermolysis bullosa and healthy control patients

You may qualify if:

• 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 :
• Person affiliated or benefiting from a social security scheme

You may not qualify if:

• 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

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (2)

Hopital Saint Louis - Service de chirurgie plastique reconstructrice et esthétique et traitement chirurgical des brûlés

Paris, France

RECRUITING

Hopital Saint Louis - service dermatologie

Paris, France

RECRUITING

MeSH Terms

Conditions

Epidermolysis Bullosa Dystrophica

Condition Hierarchy (Ancestors)

Epidermolysis Bullosa; Skin Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Collagen Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Skin Diseases; Skin Diseases, Vesiculobullous

Study Officials

• Reem Al-Daccak, Dr

  Institut National de la Santé Et de la Recherche Médicale, France

  STUDY DIRECTOR

Central Study Contacts

Emmannuelle Bourrat, Pr

CONTACT

+33142499090; emmanuelle.bourrat@aphp.fr

Jérôme Lambert, Pr

CONTACT

+33142499742; jerome.lambert@u-paris.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 11, 2023
• First Posted: December 20, 2023
• Study Start: April 15, 2024
• Primary Completion: April 15, 2025
• Study Completion: April 15, 2025
• Last Updated: July 17, 2024

Record last verified: 2024-07

Locations

FR (2)