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Clinical Trial 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.


Clinical Trial Description

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Study Design


Related Conditions & MeSH terms


NCT number NCT05165030
Study type Interventional
Source Assistance Publique - Hôpitaux de Paris
Contact Steven Knafo
Phone 01 45 21 23 80
Email steven.knafo@aphp.fr
Status Not yet recruiting
Phase N/A
Start date January 1, 2022
Completion date January 1, 2024