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The Genetic Basis of Congenital Heart Disease in Africa

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2014 by National Institutes of Health Clinical Center (CC)
Sponsor:
Collaborators:
College of Medicine, University of Lagos, Nigeria
Uganda Heart Institute, Kampala, Uganda
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )
ClinicalTrials.gov Identifier:
NCT01952171
First received: September 24, 2013
Last updated: July 19, 2014
Last verified: July 2014
  Purpose

Recent advances in genomic techniques are making possible a new wave of genetic discovery in congenital heart disease (CHD). Existing data suggests that CHD occur in Sub-Saharan Africa at frequencies similar to the rest of the world. In this application, we propose to utilize the unique advantages of Sub-Saharan Africa - a combination of the most genetically diverse populations in the world and of diminished environmental background effects (i.e. low prevalence of smoking, alcohol abuse, obesity in comparison to western countries) - to better understand the genetic basis for congenital heart disease. We will couple next generation genomic techniques with more traditional gene discovery methods to investigate CHD in two African countries: Uganda and Nigeria. The inclusion of syndromic and non-syndromic CHD observed in these populations as well as careful phenotyping (including echocardiography) will greatly enhance our potential to provide insight into the genetic architecture of CHD in African populations. To accomplish this, we plan to enroll families, in whom members have congenital heart malformations consistent with an error of early human development in our research protocol. Patients will be enrolled at the Uganda Heart Institute in Kampala, Uganda, and at the Department of Pediatrics, College of Medicine, University of Lagos, Nigeria, with the potential to include other African sites. High throughput genomic studies will be done at the NIH.


Condition
Congenital Heart Disease
Heart Disease

Study Type: Observational
Official Title: The Genetic Basis of Congenital Heart Disease in Africa

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Primary Outcome Measures:
  • Determine, identify, and estimate the prevalence of novel and known CHD causing mutation in African populations [ Time Frame: 5 years ] [ Designated as safety issue: No ]
  • Characterize the genetic architecture of Congenital Heart Disease (CHD) using genomic approaches in Africa [ Time Frame: 5 years ] [ Designated as safety issue: No ]
  • Understand CHD gene function in cardiac development [ Time Frame: 5 years ] [ Designated as safety issue: No ]

Estimated Enrollment: 2500
Study Start Date: September 2013
Estimated Study Completion Date: September 2018
Estimated Primary Completion Date: September 2018 (Final data collection date for primary outcome measure)
Detailed Description:

Recent advances in genomic techniques are making possible a new wave of genetic discovery in congenital heart disease (CHD). Existing data suggests that CHD occur in Sub-Saharan Africa at frequencies similar to the rest of the world. In this application, we propose to utilize the unique advantages of Sub-Saharan Africa - a combination of the most genetically diverse populations in the world and of diminished environmental background effects (i.e. low prevalence of smoking, alcohol abuse, obesity in comparison to western countries) - to better understand the genetic basis for congenital heart disease. We will couple next generation genomic techniques with more traditional gene discovery methods to investigate CHD in two African countries: Uganda and Nigeria. The inclusion of syndromic and non-syndromic CHD observed in these populations as well as careful phenotyping (including echocardiography) will greatly enhance our potential to provide insight into the genetic architecture of CHD in African populations. To accomplish this, we plan to enroll families, in whom members have congenital heart malformations consistent with an error of early human development in our research protocol. Patients will be enrolled at the Uganda Heart Institute in Kampala, Uganda, and at the Department of Pediatrics, College of Medicine, University of Lagos, Nigeria, with the potential to include other African sites. High throughput genomic studies will be done at the NIH.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Criteria
  • INCLUSION CRITERIA:

The study will include affected individuals and their affected/or unaffected family members. Family members will include parents and siblings. The goal will to be obtaining a minimum of a trio (affected and both parents) to increase probability of finding gene mutations. Clinical criteria for inclusion is defined as presence of a congenital cardiac malformation related to errors in early human development. The diagnosis of congenital heart disease (presence of a congenital cardiac malformation thought to be related to errors in early human development) will be made by a cardiologist on our team based on echocardiogram (performed by C.S., A.B. or E.E.), physical examination, medical history, and review of medical record.

EXCLUSION CRITERIA:

Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of their children as minors) or assent.

  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: NCT01952171

Contacts
Contact: Paul S Kruszka, M.D. (301) 402-9654 kruszkaps@mail.nih.gov
Contact: Maximilian Muenke, M.D. (301) 402-8167 mamuenke@mail.nih.gov

Locations
United States, District of Columbia
Childrens National Medical Center Recruiting
Washington, District of Columbia, United States
Nigeria
University of Lagos Recruiting
Lagos, Nigeria
Thailand
Chiang Mai University Recruiting
Chiangmai, Thailand
Uganda
Mulago Hospital Recruiting
Kampala, Uganda
Sponsors and Collaborators
College of Medicine, University of Lagos, Nigeria
Uganda Heart Institute, Kampala, Uganda
Investigators
Principal Investigator: Maximilian Muenke, M.D. National Human Genome Research Institute (NHGRI)
  More Information

Publications:
Responsible Party: National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )
ClinicalTrials.gov Identifier: NCT01952171     History of Changes
Other Study ID Numbers: 999913207, 13-HG-N207
Study First Received: September 24, 2013
Last Updated: July 19, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Genomics
Congenital Malformations
Birth Defects
Heart Disease

Additional relevant MeSH terms:
Heart Defects, Congenital
Heart Diseases
Cardiovascular Abnormalities
Cardiovascular Diseases
Congenital Abnormalities

ClinicalTrials.gov processed this record on October 21, 2014