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Genetic Analysis of the Chiari I Malformation

StatusCompleted
PhaseNot specified
Started
View on ClinicalTrials.gov ↗

Record History

The 50 most recent of 320 record versions are accounted for below. See every version on ClinicalTrials.gov ↗

  1. 50 versions Re-verified since Nov 1, 2024, no change to tracked fieldsv271-v320
  • Stopped: an ongoing trial was terminated, suspended or withdrawn.
  • Notable: the trial’s plan changed such as a big move in its timeline or size, a new primary endpoint, sponsor or phase, or recruiting opened or resumed.
  • Minor: routine progress and housekeeping, such as sites added or enrollment closed.
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.
Trial Details
NCT Number NCT00004738
Lead Sponsor National Institute of Neurological Disorders and Stroke (NINDS)
Conditions Syringomyelia, Type I Arnold Chiari Malformation
Enrollment 152 participants
Start Date
Updated on ClinicalTrials.gov