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The Genetics of Chiari Type I Malformation

This study is ongoing, but not recruiting participants.
Sponsor:
Information provided by (Responsible Party):
Duke University
ClinicalTrials.gov Identifier:
NCT01060800
First received: February 1, 2010
Last updated: June 22, 2016
Last verified: June 2016
  Purpose
Duke University Medical Center is investigating the hereditary basis of Chiari type I malformations with or without syringomyelia (CM1/S). Our research is aimed at learning if CM1/S is indeed caused by factors inherited through the family and, if so, which genes are involved.

Condition
Chiari Type I Malformation

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Cross-Sectional
Official Title: The Genetics of Chiari Type I Malformation (CMI) With or Without Syringomyelia

Resource links provided by NLM:


Further study details as provided by Duke University:

Primary Outcome Measures:
  • Genetic factors contributing to Chiari Type I malformation [ Time Frame: end of study ] [ Designated as safety issue: No ]
    This study aims to identify genetic factors that contribute to or cause Chiari Type I malformation.


Biospecimen Retention:   Samples With DNA
Whole blood, serum, DNA

Estimated Enrollment: 2000
Study Start Date: June 2009
Estimated Study Completion Date: August 2020
Estimated Primary Completion Date: August 2020 (Final data collection date for primary outcome measure)
Detailed Description:
Duke University Medical Center is actively recruiting families who have TWO OR MORE family members with Chiari Type I Malformations, with or without syringomyelia. These family members must be related to each other by blood, and BOTH must be willing to participate.
  Eligibility

Ages Eligible for Study:   Child, Adult, Senior
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Families who have TWO OR MORE family members with Chiari Type I Malformation, with or without syringomyelia. These family members must be related to each other by blood, and BOTH must be willing to participate.
Criteria

Inclusion Criteria:

  • Families who have TWO OR MORE family members with Chiari Type I Malformation, with or without syringomyelia. These family members must be related to each other by blood, and BOTH must be willing to participate.

Exclusion Criteria:

  • Singleton cases of Chiari Type I Malformation
  • Presence of supratentorial or infratentorial tumors
  • Presence of a lumbar shunt
  • History of birth trauma
  • History of spina bifida
  • History of cervical or cranial surgery unrelated to CM1
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01060800

Locations
United States, North Carolina
Duke University Medical Center
Durham, North Carolina, United States, 27710
Sponsors and Collaborators
Duke University
Investigators
Principal Investigator: Allison Ashley-Koch, PhD Duke University
  More Information

Additional Information:
Responsible Party: Duke University
ClinicalTrials.gov Identifier: NCT01060800     History of Changes
Other Study ID Numbers: Pro00011231 
Study First Received: February 1, 2010
Last Updated: June 22, 2016
Health Authority: United States: Institutional Review Board
Individual Participant Data  
Plan to Share IPD: No

Keywords provided by Duke University:
Chiari
Chiari Type I
Chiari Type I Malformation
Familial Chiari

Additional relevant MeSH terms:
Congenital Abnormalities
Arnold-Chiari Malformation
Neural Tube Defects
Nervous System Malformations
Nervous System Diseases

ClinicalTrials.gov processed this record on September 30, 2016