Genetic Analysis of the Chiari I Malformation

Completed

Conditions studied: Syringomyelia, Type I Arnold Chiari Malformation

In brief

The purpose of this study is to better understand the genetic factors related to the Chiari I malformation. In people with this abnormality, the lower part of the skull is smaller than normal. As a result, the lowest part of the brain, called the cerebellar tonsils, protrudes out of the hole at the bottom of the skull into the spinal canal. This study will try to discover the location of the genes responsible for the malformation. Candidates for this study are: 1) Patients with Chiari I malformation who also have a family member with the abnormality or a family member with syringomyelia (a cyst in the spinal cord that is often associated with the Chiari I malformation). 2) Family members of patients with the Chiari I malformation. Participants will have a medical history and physical and neurologic examinations. They will undergo magnetic resonance imaging (MRI) of the brain and cervical (neck) spinal cord to measure the size of the head and determine the presence of the Chiari I malformation and syringomyelia. A small blood sample (about 2 tablespoons) will be drawn for DNA studies relating to the Chiari I malformation.

Key facts

Study ID

NCT00004738

Run by

National Institute of Neurological Disorders and Stroke (NINDS)

People needed

152

Starts

2001-06-04

Last updated by the study team

2026-07-16

Who can join

Age: 1 and older. Sex: any. Healthy volunteers: not accepted.

You may not qualify if…

• 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.

Where it is running

• National Institutes of Health Clinical Center — Bethesda, Maryland, United States
• Kazan State Medical University — Kazan', Russia

Full record on ClinicalTrials.gov

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