The Genetic Basis of Acquired Heart Disease in Africa

NCT02124109 | Completed

• 2 other identifiers: 99991409814-HG-N098
• Study Type: observational
• Target: 736
• Locations: 2 countries
• Sites: 2

Brief Summary

Background: \- An acquired heart disease is one that a person gets after they are born. Two of these are rheumatic heart disease (RHD) and endomyocardial fibrosis (EMF). They are found more commonly in people who live in Africa than in other places in the world. Researchers want to learn more about these diseases. They especially want to know what role genes and other factors play in them. Objective: \- To identify genetic risk factors for RHD and EMF in sub-Saharan Africa. Eligibility:

• Children and adults with RHD or EMF.
• Healthy volunteers over age 10. Design:
• Participants will come from existing study groups in Uganda and Nigeria.
• Participants may be required to provide a sample of their DNA. They will do this with either a blood or saliva sample or a swab of the mouth.
• Collected samples will be labeled with a code and sent to a lab in the United States for analysis. Remaining portions of participants samples will be stored for an unlimited period of time. They may be used in future studies.
• Some genetic and health information from participants might be placed into one or more scientific databases.
• Participant names and identifying information will be kept private. But there is a small chance someone could trace them from their genetic information.

Conditions

Rheumatic Heart Disease; Rheumatic Fever; Endomyocardial Fibrosis; Acquired Heart Disease

Keywords

Rheumatic Heart Disease

Outcome Measures

Primary Outcomes (1)

• Extension of study

  Extend our previous epidemiological studies of RHD in Ugandan schoolchildren (Beaton et al 2012) by conducting a similar study ofRHD in Nigerian children

  ongoing

Study Arms (2)

Control

Control group

rheumatic heart disease

Patients with rheumatic heart disease

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with rheumatic heart disease@@@

You may qualify if:

• Rheumatic Heart Disease:
• Patients with a definite diagnosis of rheumatic heart disease based on the 2006 World Health Organization/National Institutes of Health Joint Criteria (http://www.niaid.nih.gov/topics/strepThroat/Documents/groupasequelae.pdf) controls who do not meet this criteria. The diagnosis will be made by a cardiologist on our team. The method of screening and recruitment will be specific to each of our two sites: Uganda Heart Institute and University of Lagos, Nigeria.
• Uganda Heart Institute:
• recruitment will be conducted from an existing cohort of patients initially recruited by members of our team from 21 randomly selected
• schools in Uganda. Participants meeting the criteria noted above for RHD will be considered cases and those who do not will be considered controls. Additionally, parents will be invited to participate as controls. For controls, only children over age 10 will be considered as this increases the likelihood of exposure
• to S. pyogenes. The initial study was approved by the institutional review boards of the Children s National Medical Center (Washington,D.C.), Makerere University (Kampala, Uganda), and the
• Ugandan Ministries of Health and Education
• University of Lagos:
• This program will be modeled after the Uganda program. Participants will be screened for RHD at the College of Medicine or at randomly selected schools. Participants meeting criteria for RHD will be consented as cases and those negative for RHD will be consented as controls. Additionally, parents will be invited to participate as controls. For controls, only children over age 10 will be considered as this increases the likelihood of exposure to S. pyogenes
• Endomyocardial Fibrosis (EMF):
• Cases: the study will include patients with a diagnosis of EMF based on echocardiography, history, and physical exam performed by cardiologist;on our team Over 50 patients have been identified at the Uganda Heart Institute with EMF and will be contacted for study participation; additionally, newly diagnosed patients at the Uganda Heart Institute will be offered participation.
• Controls: Geographic and age matched controls will be used for association study. Controls will be disease free, based on above criteria. We will exclude controls less than 15 years of age based on disease peak around age 10. Controls will be selected from those being screening for RHD

You may not qualify if:

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

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (2)

University of Lagos

Lagos, Nigeria

Location

Mulago Hospital

Kampala, Uganda

Location

MeSH Terms

Conditions

Rheumatic Heart Disease; Rheumatic Fever; Endomyocardial Fibrosis

Condition Hierarchy (Ancestors)

Streptococcal Infections; Gram-Positive Bacterial Infections; Bacterial Infections; Bacterial Infections and Mycoses; Infections; Heart Diseases; Cardiovascular Diseases; Arthritis; Joint Diseases; Musculoskeletal Diseases; Rheumatic Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Cardiomyopathies

Study Officials

• Paul S Kruszka, M.D.

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 25, 2014
• First Posted: April 28, 2014
• Study Start: April 3, 2014
• Primary Completion: March 8, 2019
• Study Completion: February 6, 2020
• Last Updated: February 13, 2020

Record last verified: 2020-02

Locations

NG (1); UG (1)