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Scientists hunt for genes behind chiari brain malformation

NCT ID NCT00004738

Knowledge-focused Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Sep 09, 2026 · Updated 7 times

Summary

This study looked at the genetics of Chiari I malformation, a condition where part of the brain pushes into the spinal canal. Researchers analyzed DNA and family histories from 152 participants to find genes that may cause the malformation. The goal was to better understand why it happens, not to test a treatment.

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 linked to Chiari I malformation, paving the way for future genetic tests or targeted therapies.
What could go wrong
This is an observational genetic study, not a treatment trial. It may not find clear genetic links, and any potential treatments are far off.

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.

Participants

152 people

The number who actually took part.

Started

Jun 2001

Lead sponsor

A government research agency

The lead sponsor is the US National Institutes of Health.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Patient with a confirmed diagnosis of Chiari I malformation who has a family member with syringomyelia or Chiari I malformation, or family member of a patient with a confirmed diagnosis of Chiari I malformation.

Ages

1 year and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show 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: To be eligible for entry into the study, a candidate must meet the following criteria: Patient with a confirmed diagnosis of Chiari I malformation who has a family member with syringomyelia or Chiari I malformation, or Family member of a patient with a confirmed diagnosis of Chiari I malformation, AND There are at least two family members diagnosed with Chiari I malformation. If an adult, able to give informed consent; if a minor, has an adult who is legally responsible for the subject and who is able to give consent. EXCLUSION CRITERIA: A candidate will be excluded if he/she: Has a contraindication to MRI scanning. Is unable to comprehend the risks of the testing. Is less than one year of age. Cannot undergo MRI scanning without sedation.

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Conditions

The condition(s) this trial relates to.

Chiari malformation Chiari malformation type I Mucopolysaccharidosis IV syringomyelia

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Syringomyelia Type I Arnold Chiari malformation

Contacts and locations

Locations

  • Kazan State Medical University

    Kazan', Russia

  • National Institutes of Health Clinical Center

    Bethesda, Maryland, 20892, United States

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