The Genetic Basis of Acquired Heart Disease in Africa

• Register: ClinicalTrials.gov
• Last refreshed on: 12 December 2020
• Main ID: NCT02124109
• Date of registration: 25/04/2014
• Prospective Registration: No
• Primary sponsor: National Human Genome Research Institute (NHGRI)
• Public title: The Genetic Basis of Acquired Heart Disease in Africa
• Scientific title: The Genetic Basis of Acquired Heart Disease in Africa
• Date of first enrolment: April 3, 2014
• Target sample size: 736
• Recruitment status: Completed
• URL: https://clinicaltrials.gov/show/NCT02124109
• Study type: Observational

Countries of recruitment

Nigeria, Uganda

Contacts

• Name: Paul S Kruszka, M.D.
• Affiliation: National Human Genome Research Institute (NHGRI)

Key inclusion & exclusion criteria

- INCLUSION CRITERIA:

- 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

EXCLUSION CRITERIA:

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



Age minimum: N/A
Age maximum: N/A
Gender: All

Health Condition(s) or Problem(s) studied

Acquired Heart Disease

Rheumatic Fever

Rheumatic Heart Disease

Endomyocardial Fibrosis

Primary Outcome(s)

Extension of study [Time Frame: ongoing]

Secondary ID(s)

14-HG-N098

999914098

Source(s) of Monetary Support

Please refer to primary and secondary sponsors