NCT00005322

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

100
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Timeline
Completed

Started Jan 1990

Longer than P75 for all trials

Status
completed

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

Completed
8.9 years until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 1998

Completed
1.5 years until next milestone

First Submitted

Initial submission to the registry

May 25, 2000

Completed
1 day until next milestone

First Posted

Study publicly available on registry

May 26, 2000

Completed
Last Updated

September 28, 2016

Status Verified

August 1, 2004

First QC Date

May 25, 2000

Last Update Submit

September 27, 2016

Conditions

Eligibility Criteria

AgeUp to 100 Years
Sexmale
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
No eligibility criteria

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

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: 8112730BACKGROUND
  • Zittergruen 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: 7586245BACKGROUND
  • Sheffield 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

Cardiovascular DiseasesHeart DiseasesHeart Defects, CongenitalHeart Septal Defects, AtrialHeart Septal Defects, VentricularEndocardial Cushion Defects

Condition Hierarchy (Ancestors)

Cardiovascular AbnormalitiesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesHeart Septal Defects

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