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


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




Recessive Dystrophic Epidermolysis Bullosa


Other: Skin biopsies
Other: Blood collection

Study type


Funder types



2012-A01051-42 (Registry Identifier)

Details and patient eligibility


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).

Full 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.


30 estimated patients




7 to 65 years old


No Healthy Volunteers

Inclusion criteria

  • Confirmed molecular diagnosis of recessive dystrophic epidermolysis bullosa, established for both alleles;
  • Non severe generalized clinical form of RDEB;
  • Presence of type VII collagen on skin biopsy and/or western-blot analysis detected with a set of specific antibodies;
  • Presence of intact skin areas without blisters, infection or erosion;
  • Absence of hospitalization related to EB condition;
  • Patients and their parents when applicable should be able and willing to return for follow up;
  • Patients should be able and willing to give signed informed consent. For patients who are minor, informed consent will be signed by a legally authorized representative, as well as an assent form by the minor patient.
  • Ability to undergo local anesthesia.

Exclusion criteria

  • Severity of disease and presence of ill-prognostic features:

    1. Premature termination codon in the noncollagenous (NC1) domain of COL7A1 on both alleles;
    2. Absence of detectable type VII collagen expression on skin biopsy and Western blot analysis from cultured cells;
  • Underlying conditions, diseases or active infections likely to increase the risk of complications or to interfere with the biological investigations:

    1. History of current or previous skin cancer (Squamous cell carcinoma or other malignant skin cancer);
    2. Current infectious diseases, including systemic infections and known positive HIV serology (Kaposi's sarcoma), hepatitis B and C;
    3. History of current psychological or psychiatric disease;
    4. Absence of an adequate familial and social support;
    5. History of current or previous organ diabetes mellitus;
    6. Non corrected severe anemia (Hemoglobin level: < 8 g/ml);
    7. Non corrected iron deficiency;
    8. History of significant allergy to an anaesthetic procedure
    9. Patient currently receiving anticoagulant or anti-aggregation treatment;
    10. Participation in another clinical trial or therapy protocol for RDEB at the time of study inclusion
    11. Positive pregnancy urinary test or lactating women
  • Not affiliated to the national social security/health service beneficiary and families with beneficiary children.

Trial design

30 participants in 1 patient group

Blood collection and skin biopsies
Other: Blood collection
Other: Skin biopsies

Trial contacts and locations



Central trial contact

Alain Hovnanian, Prof

Data sourced from

Clinical trials

Find clinical trialsTrials by location
© Copyright 2024 Veeva Systems