Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 30
- 试验地点
- 3
- 主要终点
- Determination of the proliferative capacity of keratinocytes and fibroblasts in characterized RDEB patients
研究概览
简要总结
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).
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- 7 Years 至 65 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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.
研究组 & 干预措施
Blood collection and skin biopsies
干预措施: Blood collection (Other)
Blood collection and skin biopsies
干预措施: Skin biopsies (Other)
结局指标
主要结局
Determination of the proliferative capacity of keratinocytes and fibroblasts in characterized RDEB patients
时间窗: Month 23
Populations of keratinocytes and fibroblasts isolated from punch biopsies will be analyzed for their proliferative capacity.
次要结局
- Clinical evaluation and scoring(Month 9)
- Assessment of type VII collagen expression and anchoring fibrils formation in the skin(Month 9)
- Identification of COL7A1 mutations(Month 9)