Protocol Details

Genetic Analysis of the Chiari I Malformation

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	00-N-0089
Sponsoring Institute	National Institute of Neurological Disorders and Stroke (NINDS)
Recruitment Detail	Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 1 Max Age: N/A
Referral Letter Required	No
Population Exclusion(s)	None
Special Instructions	Currently Not Provided
Keywords	Arnold Chiari Malformation; Skeletal Dysplasia; Syringomyelia; Genetics
Recruitment Keyword(s)	Chiari I Malformation
Condition(s)	Syringomyelia; Type I Arnold Chiari Malformation
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Institute of Neurological Disorders and Stroke

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.

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Eligibility

INCLUSION CRITERIA:

To be eligible for entry into the study, a candidate must meet the following criteria:

Patient with the Chiari I malformation who has a family member with syringomyelia or Chiari I malformation, or

Family member of a patient with the 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:

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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Citations:

Significance of cerebellar tonsillar position on MR

Posterior fossa volume and response to suboccipital decompression in patients with Chirari I malformation

Chiari I malformation redefined: clinical and radiographic findings for 364 symptomatic patients

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Contacts:

Principal Investigator	Referral Contact	For more information:
John D. Heiss, M.D. National Institute of Neurological Disorders and Stroke (NINDS)	Rene K. Smith, R.N. National Institute of Neurological Disorders and Stroke (NINDS) National Institutes of Health Building 10 Room 3D20 10 Center Drive Bethesda, Maryland 20892 Not Listed SNBrecruiting@nih.gov	Patient Recruitment and Public Liaison Office Building 61 10 Cloister Court Bethesda, Maryland 20892-4754 Toll Free: 1-800-411-1222 TTY: 301-594-9774 (local),1-866-411-1010 (toll free) Fax: 301-480-9793 prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00004738

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