Clinical Trial – Rheumatic heart disease Genetics (RECHARGE) – Rheumatic fever

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.

Study Type  : Observational [Patient Registry]
Estimated Enrollment  : 1000 participants
Observational Model: Case-Control
Time Perspective: Prospective
Target Follow-Up Duration: 5 Years
Official Title: Next Generation Sequencing Approach to the Study of Rheumatic Heart Disease
Study Start Date  : February 2014
Estimated Primary Completion Date  : July 2022
Estimated Study Completion Date  : July 2022
Contact: Jochen D Muehlschlegel, MD, MMSc +1 617 732 7330
Contact: Leon Mutesa, MD PhD +250 78 845 10 13


University of Rwanda Recruiting
Kigali, Rwanda
Contact: Leon Mutesa, MD, PhD    +250 78 845 10 13
Principal Investigator: Leon Mutesa, MD, PhD Identifier: NCT02118818
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