Clinical Trial â Rheumatic heart disease Genetics (RECHARGE) â 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 | jmuehlschlegel@partners.org | |
| Contact: Leon Mutesa, MD PhD | +250 78 845 10 13 | lmutesa@nur.ac.rw |
| Rwanda | |
| University of Rwanda | Recruiting |
| Kigali, Rwanda | |
| Contact: Leon Mutesa, MD, PhD Â Â +250 78 845 10 13 Â Â Â lmutesa@nur.ac.rw | |
| Principal Investigator: Leon Mutesa, MD, PhD | |
| ClinicalTrials.gov Identifier: | NCT02118818 |