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RhEumatiC Heart diseAse Genetics

NCT02118818 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 245

Last updated 2024-08-22

No results posted yet for this study

Summary

Rheumatic fever (RF) is an autoimmune disease that is mediated by the cellular and humoral immune response that follows an untreated pharyngeal Streptococcus pyogenes infection. The most serious complication is rheumatic heart disease (RHD), one of the most common problems facing children and young adults worldwide, which leads to chronic valvular lesions. It is estimated that 60% of all acute rheumatic fever cases will develop RHD.

The pathogenesis of RHD is complex with both environmental and genetic factors contributing to its etiology. The investigators know little about the genetic etiology, cellular events and modifiers of progression of RHD, and there exists a wide range of disease severity and progression to severe valve pathology.

Thus, the investigators will study the genetics of RHD in Rwanda, a country with a very high incidence of RHD, using a combination of next-generation targeted exome capture, transcriptomics, and expressed quantitative trait loci (eQTL) analysis.

Conditions

  • Rheumatic Heart Disease

Interventions

GENETIC

Next generation sequencing

There will be no intervention. This is an observational trial to examine the differences in genetic variants and gene expression between patients with and without RHD.

Sponsors & Collaborators

  • National University, Rwanda

    collaborator OTHER

  • Brigham and Women's Hospital

    lead OTHER

Principal Investigators

  • Jochen D Muehlschlegel, MD MMSc, MBA · Johns Hopkins University

Eligibility

Min Age
5 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2014-02-28
Primary Completion
2024-07-31
Completion
2024-07-31

Countries

  • Rwanda

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02118818 on ClinicalTrials.gov