NCT05165030

Identification of Genetic Mutations Involved in Chiari Type I Malformations

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 40 (actual)
• Sponsor: Assistance Publique - Hôpitaux de Paris · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Accepted

Summary

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.

Conditions

• Chiari Malformation, Type 1

Interventions

Type	Name	Description
GENETIC	Blood Sample	clinical-radiological evaluation, genetic analysis by whole exome sequencing and constitution of a bio-collection

Timeline

• Start date: 2022-06-15
• Primary completion: 2022-06-15
• Completion: 2025-07-25
• First posted: 2021-12-21
• Last updated: 2026-03-17

Locations

1 site across 1 country: France