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

Study Status: Recruiting
Recruit Status: Unknown status
Study Type: Observational

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

Brief 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 Summary: 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.
Sponsor: Institut National de la Santé Et de la Recherche Médicale, France

Current Primary Outcome: Determination of the proliferative capacity of keratinocytes and fibroblasts in characterized RDEB patients [ Time Frame: Month 23 ]

Populations of keratinocytes and fibroblasts isolated from punch biopsies will be analyzed for their proliferative capacity.


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Clinical evaluation and scoring [ Time Frame: Month 9 ]
    Clinical evaluation and scoring will be assessed using The Birmingham Epidermolysis Bullosa Severity score.
  • Identification of COL7A1 mutations [ Time Frame: Month 9 ]
    COL7A1 mutations will be screened by direct sequencing of peripheral blood DNA using a set of primers designed to sequence the 118 COL7A1 exons and their intronic junctions.
  • Assessment of type VII collagen expression and anchoring fibrils formation in the skin [ Time Frame: Month 9 ]
    Punch biopsies of the patient skin will be taken and processed for cell culture (keratinocytes and fibroblasts) and for histological and ultrastructural analyses.


Original Secondary Outcome: Same as current

Information By: Institut National de la Santé Et de la Recherche Médicale, France

Dates:
Date Received: April 3, 2013
Date Started: June 2013
Date Completion: June 2015
Last Updated: December 17, 2013
Last Verified: December 2013