Evolving Role of Patient Registries in Alport Syndrome

Abstract

Alport syndrome is a relatively rare but important genetic cause of progressive kidney disease, sensorineural deafness and ocular abnormalities. Alport syndrome arises from genetic variants in the COL4A3, COL4A4 and COL4A5 genes, resulting in abnormal collagen IV networks in the basement membranes of the target organs. In the kidney, the basement membrane changes initiate a fibrotic cascade kidney failure. Our understanding of the natural history of Alport syndrome has been greatly enhanced by Alport syndrome registries, which have also generated insights that have helped to establish standards of care for the treatment of Alport kidney disease. Alport syndrome registries contribute to recruitment of participants in clinical trials of innovative therapies, and will in the future assist in monitoring the long-term outcomes associated with these novel approaches. This article reviews the history of Alport syndrome registries and discusses the opportunities and challenges facing these registries in the future.