Protocol Details
Genetic Analysis of the Chiari I Malformation
This study is NOT currently recruiting participants.
Summary
Number |
00-N-0089 |
Sponsoring Institute |
National Institute of Neurological Disorders and Stroke (NINDS) |
Recruitment Detail |
Type: Completed Study; data analyses ongoing
Gender: Male & Female
Min Age: 1
Max Age: N/A |
Referral Letter Required |
No |
Population Exclusion(s) |
None |
Keywords |
Arnold Chiari Malformation;
Skeletal Dysplasia;
Syringomyelia;
Genetics;
Natural History |
Recruitment Keyword(s) |
None |
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.
Eligibility
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.
Citations:
Not Provided
Contacts:
Clinical Trials Number:
NCT00004738