Scientists hunt for genes behind chiari malformation
NCT ID NCT05165030
First seen Jun 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This completed study looked for genetic causes of Chiari type I malformation, a condition where part of the brain pushes into the spinal canal. Researchers took blood samples from 40 people with the condition and their relatives to analyze their DNA. The goal was to find specific gene mutations that might explain why some families have this condition.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this could identify genes responsible for Chiari malformation, potentially pointing toward future genetic tests or therapies.
- What could go wrong
- This is a small, completed genetic study, not a treatment trial. It may not find clear genetic links, and any findings would need much more research before helping patients.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Phase
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Not a phased trial
Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.
- Participants
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40 people
The number who actually took part.
- Started
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Jun 2022
- Finished
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Jul 2025
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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Children (under 18), adults (18 to 64) and older adults (65 and over)
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: * 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 Exclusion Criteria: * 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
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Service de Neurochirurgie
Le Kremlin-Bicêtre, Kremlin-Bicêtre, 94270, France
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