Identification of Genetic Mutations Involved in Chiari Type I Malformations
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 40
- 试验地点
- 1
- 主要终点
- Identification of the gene (s) whose mutations are responsible for the occurrence of a Chiari type I malformation, whether associated with syringomyelia or not.
研究概览
简要总结
Although most cases of Chiari malformation type I (CM1) are sporadic, familial cases of CM1, with or without syringomyelia, suggest a genetic cause in the pathogenesis of these malformations.
The hypothesis is that there is one or more genes, in particular among those involved in the development of the axial skeleton and the cranium, which could lead to an abnormal morphology of the posterior fossa resulting in tonsillar herniation defining CM1.
The abnormal circulation of cerebrospinal fluid due to tonsillar herniation is believed to be responsible, in some patients whose predisposing factors remain to be determined, for the progressive onset of associated syringomyelia.
Since the determinants underlying the development of the posterior fossa of the skull are multigenic, the analysis of familial cases would make it possible to reduce genetic and phenotypic heterogeneity allowing to identify common pathogenic variants.
For this study the investigators will be taking a blood sample to perform whole exome sequencing, build a biological collection and record imaging and clinical data.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Other
- 盲法
- None
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Having a social security
- •Participant or legal representative having given his consent
- •For patients: Diagnosis of a Chiari malformation type 1, defined morphologically as cerebellar tonsillar herniation beyond the foramen magnum greater than 5 mm, with or without associated syringomyelia, and which has at least one relating to the 1st or 2nd degree (parents, siblings; grandparents, uncles, aunts, cousins) carrying the malformation.
- •For relatives: at least two 1st degree relatives diagnosed with a Chiari type 1 malformation
排除标准
- •Syndromic form of Chiari malformation
- •Patient with a legal protection measure
- •Pregnant or breastfeeding woman
- •Contraindication to MRI
- •For patients: diagnosis of Chiari malformation type 1 that could not be confirmed by MRI
- •For relatives: age under 18 years
研究组 & 干预措施
Blood Sample
Blood Sample
干预措施: Blood Sample (Genetic)
结局指标
主要结局
Identification of the gene (s) whose mutations are responsible for the occurrence of a Chiari type I malformation, whether associated with syringomyelia or not.
时间窗: At inclusion (as soon as the patient agree)
Description of gene mutations in patients with Chiari type I malformation by whole exome sequencing
次要结局
- Identification of the gene (s) whose mutations are associated with the occurrence of syringomyelia in patients with Chiari type I malformation(At inclusion (as soon as the patient agree))
- Establishment of a DNA bank for familial Chiari type I malformations(At inclusion (as soon as the patient agree))