NCT01114035已完成不适用
Characterization Phenotypic and Genetic Study of the Intestinal Epithelial Dysplasia or TE
适应症
干预措施
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 41
- 试验地点
- 1
- 主要终点
- gene identification
研究概览
简要总结
This PHRC is centred on the intestinal epithelial dysplasia ( DEI) or " tufting enteropathy " or TE the clinical and histo-pathological descriptions of which are specified well to the digestive plan(shot).
详细描述
The objectives of this PHRC are:
- the phenotypic analysis of the intestinal epithelial dysplasia by clinical and histo-pathological investigations.
- the identification of proteins involved at the intestinal level in the differentiation, the proliferation and the membership of the epithelial cells
- from the phenotypic study, a genetic analysis of type maps by homozygote on the whole genome partner in an approach guided by possible candidate genes
- the study of the genes, chosen according to their location, to their profile of expression, and to their function in touch with the pathogenic hypotheses
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- — 至 15 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patient sent in the service of Gastroenterology Pediatric Hepatology of the Hospital Necker Enfants Malades for an intestinal transplantation, from 0 to 15 years old presenting:
- •A known epithelial dysplasia (Diagnosis established on the clinical and histo-morphological criteria from one or several intestinal biopsies, with or without diagnosis known or suspected in the family). The objectives are the phenotypic characterization of the case and the revealing of markers characteristic immuno-histochemistry which can be of use to the diagnosis and direct to candidate genes
- •Or a suspicion of dysplasia epithelial (compatible clinical History(Story) with or without extra-digestive demonstrations(appearances) of type keratinate punctuated superficial (KPS), abnormalities cutanea or atresia CHOANS with atypical digestive histology and without diagnosis known in the family). The objectives are the diagnosis on the basis of the immuno-histochemistry expression and the existence of an infringement(achievement) conjunctival and the phenotypic characterization of the case
- •The lit(enlightened) and written consent of both holders of the parental authority must be beforehand obtained as well as that of the patient if it is in age to understand(include).
排除标准
- •Not membership in a national insurance scheme (beneficiary or legal successor)
- •Family not understanding(including) French
- •Refusal of one of both relatives(parents)
研究组 & 干预措施
Patients
Experimental
intestinal epithelial dysplasia
干预措施: blood samples and skin biopsies (Genetic)
Control
Other
Children without intestinal epithelial dysplasia
干预措施: Skin biopsies (Genetic)
结局指标
主要结局
gene identification
时间窗: 6 months
identification of different family of genes involved in intestinal dysplasia
次要结局
- mutation identification(6 months)
研究者
研究点 (1)
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