Genetic Analysis of the Chiari I Malformation

NCT00004738 | Completed

• 2 other identifiers: 00008900-N-0089
• Study Type: observational
• Target: 152
• Locations: 2 countries
• Sites: 2

Brief 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

Keywords

Arnold Chiari Malformation; Skeletal Dysplasia; Syringomyelia; Genetics; Natural History

Outcome Measures

Primary Outcomes (2)

• Family Pedigree/Genetic Linkage

  Establish family pedigrees and undertake genetic linkage analysis that will identify gene loci associated with the Chiari I malformation andunderdevelopment of the bone forming the posterior cranial fossa.

  ongoing

• Genetic Analysis

  Genetic analysis of the genomic DNA will be performed with DNA polymorphic markers to identify chromosomal loci linked to the Chiari I and small posterior fossa phenotype.

  Genetic Analysis ongoing

Study Arms (2)

Family Members

At least 2 family members of a patient with a confirmed diagnosis of Chiari I malformation.

Patients

Patient with a confirmed diagnosis of Chiari I malformation who has a family member with syringomyelia or Chiari I malformation

Eligibility Criteria

• Age: 1 Year+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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.

You may qualify if:

• 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.

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.

Sponsors & Collaborators

• National Institute of Neurological Disorders and Stroke (NINDS): lead

Study Sites (2)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Kazan State Medical University

Kazan', Russia

Location

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Syringomyelia; Arnold-Chiari Malformation; Mucopolysaccharidosis IV

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Neural Tube Defects; Nervous System Malformations; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mucopolysaccharidoses; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• John D Heiss, M.D.

  National Institute of Neurological Disorders and Stroke (NINDS)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 26, 2000
• First Posted: February 28, 2000
• Study Start: June 4, 2001
• Last Updated: May 1, 2026

Record last verified: 2026-01-22

Locations

US (1); RU (1)