NCT05116436Unknown不适用
Genetic Study of Idiopathic Scoliosis in a Cohort of Families
适应症
试验速览
- 阶段
- 不适用
- 入组人数
- 43
- 试验地点
- 1
- 主要终点
- Presence of a mutated allele in scoliosis patients versus their healthy relatives.
研究概览
简要总结
This study will focus on a large cohort of multiplex families, to precisely identify candidate genes. The fact of have a large database (fifty families, collected by the principal investigator for more than two decades), will contribute to the discovery of genes of interest. It will also allow testing for the presence or absence of mutations found in other cohorts in previous studies. The main objective of this study is to identify genetic abnormalities associated with the presence and severity of idiopathic scoliosis, in families of scoliosis.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Other
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Inclusion criteria for "sick" patients:
- •Presence of idiopathic scoliosis, diagnosed by a clinical examination by an orthopedic doctor and confirmed by the presence of a Cobb angle greater than 10 ° on radiographs of the spine
- •Signed informed consent
- •Affiliation to a social security scheme or beneficiary of such a scheme
- •Inclusion criteria for "healthy relatives":
- •Be related to the first or second degree with at least 2 individuals suffering from idiopathic scoliosis, and whose family tree over 3 generations finds at least 3 cases of idiopathic scoliosis
- •Do not present with scoliosis (clinical examination by an orthopedic doctor and x-rays of the spine).
- •Affiliation to a social security scheme or beneficiary of such a scheme
排除标准
- •Non-inclusion criteria for "sick" patients:
- •Be part of one of the following categories of vulnerable people: protected adults, adults unable to express their consent and not subject to a protection measure, pregnant women, parturients and nursing mothers, people deprived of their liberty, people hospitalized without consent, people admitted to a health or social establishment for purposes other than research
- •Suspicion of scoliosis secondary to clinical examination
- •Non-inclusion criteria for "healthy relatives":
- •Be part of one of the following categories of vulnerable people: protected adults, adults unable to express their consent and not subject to a protection measure, pregnant women, parturients and nursing mothers, people deprived of their liberty, people hospitalized without consent, people admitted to a health or social establishment for purposes other than research
- •Discovery of scoliosis during research (if scoliosis of an idiopathic nature: patient included in the cohort of patients, if secondary scoliosis: exclusion from the family).
- •All patients :
- •Pregnancy in progress or desired with discontinuation of contraception (contraindication to the realization of x-rays).
结局指标
主要结局
Presence of a mutated allele in scoliosis patients versus their healthy relatives.
时间窗: 12 months
次要结局
未报告次要终点
研究者
研究点 (1)
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