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

7 Years
65 Years
Not Enrolling
Recessive Dystrophic Epidermolysis Bullosa

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Trial Information

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

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

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

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.

Type of Study:


Study Design:

Observational Model: Cohort

Outcome Measure:

Determination of the proliferative capacity of keratinocytes and fibroblasts in characterized RDEB patients

Outcome Description:

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

Outcome Time Frame:

Month 23

Safety Issue:


Principal Investigator

Alain Hovnanian, Prof

Investigator Role:

Principal Investigator

Investigator Affiliation:

National Institut of health and medical research


France: Agence Nationale de Sécurité du Médicament et des produits de santé

Study ID:




Start Date:

June 2013

Completion Date:

June 2015

Related Keywords:

  • Recessive Dystrophic Epidermolysis Bullosa
  • RDEB
  • COL7A1
  • Collagen VII
  • Epidermolysis Bullosa
  • Epidermolysis Bullosa Dystrophica