Status:
COMPLETED
Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB)
Lead Sponsor:
Institut National de la Santé Et de la Recherche Médicale, France
Conditions:
Recessive Dystrophic Epidermolysis Bullosa
Eligibility:
All Genders
7-65 years
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...
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 t...
Eligibility Criteria
Inclusion
- 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
- Severity of disease and presence of ill-prognostic features:
- Premature termination codon in the noncollagenous (NC1) domain of COL7A1 on both alleles;
- 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:
- History of current or previous skin cancer (Squamous cell carcinoma or other malignant skin cancer);
- Current infectious diseases, including systemic infections and known positive HIV serology (Kaposi's sarcoma), hepatitis B and C;
- History of current psychological or psychiatric disease;
- Absence of an adequate familial and social support;
- History of current or previous organ diabetes mellitus;
- Non corrected severe anemia (Hemoglobin level: \< 8 g/ml);
- Non corrected iron deficiency;
- History of significant allergy to an anaesthetic procedure
- Patient currently receiving anticoagulant or anti-aggregation treatment;
- Participation in another clinical trial or therapy protocol for RDEB at the time of study inclusion
- Positive pregnancy urinary test or lactating women
- Not affiliated to the national social security/health service beneficiary and families with beneficiary children.
Key Trial Info
Start Date :
August 1 2013
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
August 1 2017
Estimated Enrollment :
30 Patients enrolled
Trial Details
Trial ID
NCT01874769
Start Date
August 1 2013
End Date
August 1 2017
Last Update
January 29 2025
Active Locations (3)
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1
Service de dermatologie Necker Hospital for sick children
Paris, France, 75743 Cedex 15
2
Inserm U781 Service de Génétique Necker Hospital for sick children
Paris, France, 75743/ Cedex 15
3
Guy's and ST Thomas NHS Foundation trust/Guy's Hospital
London, United Kingdom, SE19RT