NCT04043351已完成不适用
Diagnostic Performance of Exome Sequencing in Autism Spectrum Disorders
University Hospital, Rouen2 个研究点 分布在 1 个国家目标入组 300 人开始时间: 2019年6月12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
- 300
- 试验地点
- 2
- 主要终点
- Proportion of unrelated index cases
研究概览
简要总结
Evaluation of the diagnostic performance of exome sequencing in a prospective series of patients with autism spectrum disorders (ASD).
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patient with ASD who has been previously diagnosed by an expert center according to the DSM5 criteria using standardized instruments (ADOS, ADI-R), referred to genetic consultation by the psychiatrist who performed the clinical diagnosis, according to the recommendations of the HAS, and requesting a genetic analysis for medical purposes in this context.
- •Patient over 3 years old
- •Patient affiliated to a social security scheme
- •For minor patients: Holders of the exercise of parental authority who have read and understood the newsletter and signed the consent form
- •For a major patient: Major patient who has read and understood the newsletter and signed the consent form
- •Supervised minor / minor patient: Legal representative who has read and understood the newsletter and signed the consent form
- •Major patient under guardianship: Major patient assisted by his curator or by the judge having read and understood the newsletter and signed the consent form
- •DNA of the patient and parents available
排除标准
- •Patient who has already benefited from exome sequencing
- •Person deprived of liberty by an administrative or judicial decision
- •Pregnant or lactating woman
结局指标
主要结局
Proportion of unrelated index cases
时间窗: through study completion, an average of 4 years
at least one definite or probable risk factor or causal variant of a monogenic form of autism
次要结局
未报告次要终点
研究者
研究点 (2)
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