Chiari Malformation, Type 1ChiariGeneNCT05165030
Identification of Genetic Mutations Involved in Chiari Type I Malformations
A study testing Blood Sample in people with Chiari Malformation, Type 1, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Chiari Malformation, Type 1
- What is being tested?
- Blood Sample
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 40 participants
- Where
- 1 siteFrance
- Study dates
- 15 Jun 2022to 25 Jul 2025
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
France1 site
Service de Neurochirurgie
Le Kremlin-Bicêtre, Kremlin-Bicêtre, 94270
About this study
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.
Read more
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
- Being tested
- Blood Sample
- Keywords
- genetic mutation, syringomyelia
- Medical subject headings
- Arnold-Chiari Malformation, Syringomyelia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood SampleGenetic
clinical-radiological evaluation, genetic analysis by whole exome sequencing and constitution of a bio-collection
| Study group | Role | What they receive |
|---|---|---|
| Blood Sample | Experimental | Blood Sample Receives: Genetic: Blood Sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of the gene (s) whose mutations are responsible for the occurrence of a Chiari type I malformation, whether associated with syringomyelia or not.
Description of gene mutations in patients with Chiari type I malformation by whole exome sequencing
Measured: At inclusion (as soon as the patient agree)
Secondary outcomes (2)
Identification of the gene (s) whose mutations are associated with the occurrence of syringomyelia in patients with Chiari type I malformation
Description of gene mutations in patients with syringomyelia associated with Chiari type I malformation
Measured: At inclusion (as soon as the patient agree)
Establishment of a DNA bank for familial Chiari type I malformations
Bio-collection
Measured: At inclusion (as soon as the patient agree)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Dec 2021
- Study start15 Jun 2022
- Primary completion15 Jun 2022
- Study completion25 Jul 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Chiari Malformation, Type 1Studies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Blood sample for all participant during a consultation specific for the study
- Masking
- None (open label)
- Enrolment
- 40 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Steven Knafo, Principal investigator, APHP
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05165030
- Sponsor's protocol ID
- APHP210472
- Acronym
- ChiariGene
- Status last verified
- Oct 2021
- First submitted
- 28 Oct 2021
- Last updated
- 17 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 17 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of Genetic Mutations Involved in Chiari Type I Malformations
- ClinicalTrials.gov ID
- NCT05165030
- Acronym / sponsor ID
- ChiariGene / APHP210472
- Conditions
- Chiari Malformation, Type 1
- Keywords
- genetic mutation, syringomyelia
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 40 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- 15 Jun 2022 (actual)
- Primary completion
- 15 Jun 2022 (actual)
- Study completion
- 25 Jul 2025 (actual)
- First posted
- 21 Dec 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Blood sample for all participant during a consultation specific for the study
| Arm | Type | Receives |
|---|---|---|
| Blood Sample | Experimental | Genetic: Blood SampleBlood Sample |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (6 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood Sampleclinical-radiological evaluation, genetic analysis by whole exome sequencing and constitution of a bio-collection | Genetic | Blood Sample |
Primary outcome
Identification of the gene (s) whose mutations are responsible for the occurrence of a Chiari type I malformation, whether associated with syringomyelia or not.
Time frame: At inclusion (as soon as the patient agree)
Description of gene mutations in patients with Chiari type I malformation by whole exome sequencing
2 secondary outcomes
Identification of the gene (s) whose mutations are associated with the occurrence of syringomyelia in patients with Chiari type I malformation
Time frame: At inclusion (as soon as the patient agree)
Establishment of a DNA bank for familial Chiari type I malformations
Time frame: At inclusion (as soon as the patient agree)
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Mar 2026.
- Individual participant dataSharing planned: No
Related trials for Chiari Malformation, Type 1
Enrolling by invitationObservational study
Health-related Quality of Life in Chiari Malformation Type 1 - A National Cross-Sectional Patient Survey
Chiari Malformation Type I
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Analysis of Disturbances in Neurofluid Dynamics in Type I Chiari Malformations
Type I Chiari Malformation, Cerebral Hemodynamic
Not yet recruiting
Abnormality of the Central Canal of the Spinal Cord in Syringomyelia in a Patient With a Basal Skull Malformation
Chiari Malformation Type I, Syringomyelia
RecruitingObservational study
Neurosurgical Outcome Network
Aneurysms, Arteriovenous Malformations
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Steven Knafo principal investigator
APHP
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Blood Sample in people with Chiari Malformation, Type 1, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 17 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of the gene (s) whose mutations are responsible for the occurrence of a Chiari type I malformation, whether associated with syringomyelia or not. (time frame: At inclusion (as soon as the patient agree)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Mar 2026.