Rheumatic Heart DiseaseNCT02124109
The Genetic Basis of Acquired Heart Disease in Africa
An observational study of Rheumatic Heart Disease and Rheumatic Fever, run by National Human Genome Research Institute (NHGRI) at 2 sites in 2 countries.
Trial 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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Rheumatic Heart Disease, Rheumatic Fever, Endomyocardial Fibrosis
- How many people
- 736 participants
- Where
- 2 sitesin 2 countries
- Study dates
- 3 Apr 2014to 6 Feb 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Patients with rheumatic heart disease@@@
Who may be able to join
- 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
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- 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
Who cannot join
- -Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of their children as minors) or assent.
Trial locations and contacts
2 sites in 2 countries.
2 sites in 2 countries
About this study
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.
Read more
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.
Read the detailed description
Recent advances in genomic techniques are making possible a new wave of genetic discovery in many complex diseases. However, the genetic risk factors for two forms of acquired heart disease that are particularly common in Africa - rheumatic heart disease (RHD) and endomyocardial fibrosis (EMF) remains unknown. In this application, we propose to evaluate genetic risk factors for rheumatic heart disease (RHD) and endomyocardial fibrosis (EMF). A number of factors should facilitate the identification of genetic risk variants underlying the two conditions. First, both forms of acquired heart disease are endemic to sub-Saharan Africa (SSA). Second, affected patients and those who do not develop the conditions share a common environment. Finally, the availability of high density SNP arrays to capture common and rare variation makes the characterization of genomic variation better than ever. Patients will be enrolled at the Uganda Heart Institute in Kampala, Uganda, and at the College of Medicine, University of Lagos, Nigeria, with the potential to include other African sites. Genomic studies will be done at the NIH.
- Keywords
- Rheumatic Heart Disease
- Medical subject headings
- Rheumatic Heart Disease, Rheumatic Fever, Endomyocardial Fibrosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Control | Control group | |
| rheumatic heart disease | Patients with rheumatic heart disease |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Apr 2014 (estimated)
- Study start3 Apr 2014
- Primary completion8 Mar 2019
- Study completion6 Feb 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rheumatic Heart DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 736 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Paul S Kruszka, M.D., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02124109
- Sponsor's protocol ID
- 999914098
- Other IDs
- 14-HG-N098
- Status last verified
- Feb 2020
- First submitted
- 25 Apr 2014
- Last updated
- 13 Feb 2020
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 Feb 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Genetic Basis of Acquired Heart Disease in Africa
- ClinicalTrials.gov ID
- NCT02124109
- Acronym / sponsor ID
- 999914098
- Keywords
- Rheumatic Heart Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 736 participants (actual)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 3 Apr 2014 (actual)
- Primary completion
- 8 Mar 2019 (actual)
- Study completion
- 6 Feb 2020 (actual)
- First posted
- 28 Apr 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Recent advances in genomic techniques are making possible a new wave of genetic discovery in many complex diseases. However, the genetic risk factors for two forms of acquired heart disease that are particularly common in Africa - rheumatic heart disease (RHD) and endomyocardial fibrosis (EMF) remains unknown. In this application, we propose to evaluate genetic risk factors for rheumatic heart disease (RHD) and endomyocardial fibrosis (EMF). A number of factors should facilitate the identification of genetic risk variants underlying the two conditions. First, both forms of acquired heart disease are endemic to sub-Saharan Africa (SSA). Second, affected patients and those who do not develop the conditions share a common environment. Finally, the availability of high density SNP arrays to capture common and rare variation makes the characterization of genomic variation better than ever. Patients will be enrolled at the Uganda Heart Institute in Kampala, Uganda, and at the College of Medicine, University of Lagos, Nigeria, with the potential to include other African sites. Genomic studies will be done at the NIH.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Control | – | –Control group |
| rheumatic heart disease | – | –Patients with rheumatic heart disease |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with rheumatic heart disease@@@
Key inclusion criteria (12 listed)
- 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.
- --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
Key exclusion criteria (1 listed)
- -Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of their children as minors) or assent.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Extension of study
Time frame: ongoing
Extend our previous epidemiological studies of RHD in Ugandan schoolchildren (Beaton et al 2012) by conducting a similar study ofRHD in Nigerian children
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Feb 2020.
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Rheumatic Heart Disease
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Paul S Kruszka, M.D. principal investigator
National Human Genome Research Institute (NHGRI)
2 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Rheumatic Heart Disease and Rheumatic Fever, run by National Human Genome Research Institute (NHGRI) at 2 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 12 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 13 Feb 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Nigeria, Uganda. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Extension of study (time frame: ongoing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Feb 2020.