Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease
2 other identifiers
observational
N/A
0 countries
N/A
Brief Summary
To identify genes involved in the pathogenesis of congenital heart disease, including atrial septal defects (ASDs), paramembranous ventricular septal defects (VSDs), and atrioventricular canal defects (AVCDs).
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
Started Jan 1990
Longer than P75 for all trials
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
January 1, 1990
CompletedStudy Completion
Last participant's last visit for all outcomes
December 1, 1998
CompletedFirst Submitted
Initial submission to the registry
May 25, 2000
CompletedFirst Posted
Study publicly available on registry
May 26, 2000
CompletedSeptember 28, 2016
August 1, 2004
May 25, 2000
September 27, 2016
Conditions
Eligibility Criteria
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Sponsors & Collaborators
Related Publications (3)
Cousineau AJ, Lauer RM, Pierpont ME, Burns TL, Ardinger RH, Patil SR, Sheffield VC. Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21. Hum Genet. 1994 Feb;93(2):103-8. doi: 10.1007/BF00210591.
PMID: 8112730BACKGROUNDZittergruen MM, Murray JC, Lauer RM, Burns TL, Sheffield VC. Molecular analysis of nondisjunction in Down syndrome patients with and without atrioventricular septal defects. Circulation. 1995 Nov 15;92(10):2803-10. doi: 10.1161/01.cir.92.10.2803.
PMID: 7586245BACKGROUNDSheffield VC, Pierpont ME, Nishimura D, Beck JS, Burns TL, Berg MA, Stone EM, Patil SR, Lauer RM. Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis. Hum Mol Genet. 1997 Jan;6(1):117-21. doi: 10.1093/hmg/6.1.117.
PMID: 9002679BACKGROUND
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
Ronald Lauer
University of Iowa
Study Design
- Study Type
- observational
- Sponsor Type
- NIH
Study Record Dates
First Submitted
May 25, 2000
First Posted
May 26, 2000
Study Start
January 1, 1990
Study Completion
December 1, 1998
Last Updated
September 28, 2016
Record last verified: 2004-08