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Genetic Analysis of the Chiari I Malformation

NCT00004738 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 152

Last updated 2026-05-22

No results posted yet for this study

Summary

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.

Conditions

  • Syringomyelia
  • Type I Arnold Chiari Malformation

Sponsors & Collaborators

  • National Institute of Neurological Disorders and Stroke (NINDS)

    lead NIH

Principal Investigators

  • John D Heiss, M.D. · National Institute of Neurological Disorders and Stroke (NINDS)

Eligibility

Min Age
1 Year
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2001-06-04

Countries

  • United States
  • Russia

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00004738 on ClinicalTrials.gov