Next Generation Sequencing Approach to the Study of Rheumatic Heart Disease

2013P002682/BWH

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.

2014-02-01

2024-07-01

2024-07-01

Recruiting

1000

Inclusion Criteria: * Clinical and echocardiographic signs of RHD using WHF criteria Exclusion Criteria: * Congenital heart disease

{'studyType': 'OBSERVATIONAL', 'patientRegistry': True, 'targetDuration': '5 Years', 'designInfo': {'observationalModel': 'CASE_CONTROL', 'timePerspective': 'PROSPECTIVE'}, 'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'The investigators are collecting blood for DNA analysis from all subjects as well as heart valve tissue from subjects who undergo cardiac surgery.'}, 'enrollmentInfo': {'count': 1000, 'type': 'ESTIMATED'}}

2023-02-08