NCT03751683已完成不适用
Evaluation Genotypic, Phenotypic and Prognosis Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome
University Hospital, Lille1 个研究点 分布在 1 个国家目标入组 29 人开始时间: 2009年7月30日最近更新:
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 29
- 试验地点
- 1
- 主要终点
- allelic frequency of the mutation c.967-979del13 of the AIRE gene
研究概览
简要总结
The objective of the study will define the mutational spectrum in this French cohort, in patients with APECED syndrome genetically authenticated
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •patients with at least 2 major criteria out of the following 3: hypoparathyroidism of autoimmune origin, adrenal insufficiency of autoimmune origin, chronic cutaneous and mucosal candidiasis.
- •patients with only 1 of the 3 major criteria, associated with at least 2 of the following minor criteria: hypergonadotropic hypogonadism of autoimmune origin, atrophic gastritis, malabsorption, autoimmune hepatitis, vitiligo, alopecia, chronic keratoconjunctivitis, hypoplasia of dental enamel.
- •patients whose molecular diagnosis has been established or who will be established during the inclusion visit with the genetic sample.
排除标准
- 未提供
结局指标
主要结局
allelic frequency of the mutation c.967-979del13 of the AIRE gene
时间窗: Baseline: one session
次要结局
- the distribution of lymphocyte subpopulations on the whole cases with APECED syndrome.(Baseline: one session)
- total number of cases recognized APECED syndrome regardless of the diagnostic criteria used.(Baseline: one session)
- correlations between the clinical phenotype and the autoantibodies on all cases with APECED syndrome.(Baseline: one session)
- correlations between the mutations of the AIRE gene and the HLA genotyping on all cases with APECED syndrome.(Baseline: one session)
- proportion of patients with a molecular diagnosis of positive APECED syndrome, among patients presenting our new diagnostic criteria (a major criterion and at least 2 criteria(Baseline: one session)
- prevalence of types of antibodies found on APECED syndrome.(Baseline: one session)
研究者
研究点 (1)
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