NCT01874769

Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB)

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 30 (actual)
• Sponsor: Institut National de la Santé Et de la Recherche Médicale, France · Other Government
• Sex: All
• Age: 7 Years – 65 Years
• Healthy volunteers: Not accepted

Summary

Recessive Dystrophic Epidermolysis Bullosa (RDEB) is one of the most severe rare inherited skin disorders affecting children and adults. Current medical care protocols for RDEB patients are limited to palliative procedures to treat blistering and erosive lesions, wounds, and severe local and systemic complications such as fusion and contracture of the digits, skin cancer, esophageal stricture, severe anemia, infections, malnutrition and growth retardation. However, current medical treatments still cannot prevent the recurrence of the lesions arising from defective expression of type VII collagen (COL7A1), the main constituent of anchoring fibrils which form essential structures for dermal-epidermal adherence. The purpose of this study is to investigate the capacity of keratinocytes and fibroblasts to repair skin wounds in patients suffering from Recessive Dystrophic Epidermolysis Bullosa (RDEB).

Detailed description

In the perspective of future therapeutic interventions, which could involve protein, cellular and/or gene therapy, it is essential to investigate RDEB patients with regards to their immune tolerance to type VII collagen and their capacity of their cells for tissue reconstruction.

Conditions

• Recessive Dystrophic Epidermolysis Bullosa

Interventions

Type	Name	Description
OTHER	Blood collection	* 5 ml of blood on dry tube: Verification of the absence of auto-antibodies to type VII collagen. * 10 ml of blood sample on heparin: Verification of the absence of circulating reactive T-Lymphocytes clones to type VII collagen * 5 ml of Blood samples on ethylenediaminetetraacetic acid (EDTA): HLA genotyping of patient selected on the clinical and molecular criteria.
OTHER	Skin biopsies	* A 5-mm punch skin biopsy in the groin region performed under local anaesthesic will be undertaken during visit 1. * During the second visit, two additional 5-mm punch skin biopsies will be taken to assess stem cells proliferative capacity in 10 shortlisted patients

Timeline

• Start date: 2013-08-01
• Primary completion: 2017-08-01
• Completion: 2017-08-01
• First posted: 2013-06-11
• Last updated: 2026-03-03

Locations

3 sites across 2 countries: France, United Kingdom