The Genetics of Chiari Type I Malformation
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Purpose
The Duke Center for Human Genetics, 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 |
- 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: | June 2014 |
| Estimated Primary Completion Date: | June 2014 (Final data collection date for primary outcome measure) |
The Duke Center for Human Genetics 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| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
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.
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.
Contacts and Locations| Contact: Heidi Cope, MS, CGC | 877-825-1694 | heidi.cope@duke.edu |
| United States, North Carolina | |
| Duke University Medical Center | Recruiting |
| Durham, North Carolina, United States, 27710 | |
| Contact: Heidi Cope, MS, CGC 877-825-1694 chiari@chg.duhs.duke.edu | |
| Principal Investigator: Allison Ashley-Koch, PhD | |
| Principal Investigator: | Allison Ashley-Koch, PhD | Duke University |
More Information
Additional Information:
No publications provided
| Responsible Party: | Duke University |
| ClinicalTrials.gov Identifier: | NCT01060800 History of Changes |
| Other Study ID Numbers: | Pro00011231 |
| Study First Received: | February 1, 2010 |
| Last Updated: | January 22, 2013 |
| Health Authority: | United States: Institutional Review Board |
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 May 22, 2013