Identification of Genetic Mutations Involved in Chiari Type I Malformations
NCT ID: NCT05165030
Last Updated: 2021-12-21
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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UNKNOWN
NA
40 participants
INTERVENTIONAL
2022-01-01
2024-01-01
Brief Summary
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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.
Detailed Description
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Conditions
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Keywords
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Study Design
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NA
SINGLE_GROUP
OTHER
NONE
Study Groups
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Blood Sample
Blood Sample
Blood Sample
clinical-radiological evaluation, genetic analysis by whole exome sequencing and constitution of a bio-collection
Interventions
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Blood Sample
clinical-radiological evaluation, genetic analysis by whole exome sequencing and constitution of a bio-collection
Eligibility Criteria
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Inclusion Criteria
* 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
Exclusion Criteria
* 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
ALL
Yes
Sponsors
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Assistance Publique - Hôpitaux de Paris
OTHER
Responsible Party
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Principal Investigators
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Steven Knafo
Role: PRINCIPAL_INVESTIGATOR
APHP
Locations
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Service de Neurochirurgie
Le Kremlin-Bicêtre, Kremlin-Bicêtre, France
Countries
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Central Contacts
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Facility Contacts
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Steven Knafo
Role: primary
Other Identifiers
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APHP210472
Identifier Type: -
Identifier Source: org_study_id