Over the past 30 years much has been learned about the molecular genetics and natural history of familial forms of hematuria. However, the enhanced understanding of these conditions has yet to generate effective therapies for Alport syndrome, the form of familial hematuria associated with end-stage renal disease. Males with Alport syndrome inevitably develop end-stage kidney failure, with a 50% likelihood of dialysis or kidney transplantation by age 25 years. There is no proven treatment for Alport syndrome, although studies in animals have suggested several promising potential therapies. Potential drug treatments that might delay or prevent the development of kidney failure exist, but need to be evaluated through clinical trails. Conducting clinical trails for proposed treatments for Alport syndrome present many challenges. Because Alport syndrome is not a common disease, informative clinical trials will require the collaboration of investigators at multiple centers.
The University of Minnesota, Department of Pediatrics, proposes to create the Alport Syndrome Treatments and Outcomes Registry (ASTOR) in order to facilitate clinical trials for the treatment of Alport Syndrome. This registry will be the first of its kind in North America. Because Alport syndrome is a rare disorder, recruitment of sufficient participants for meaningful therapeutic trials will require a multicenter effort. The primary objective of establishing and sustaining this registry is to enable clinical natural history studies and therapeutic trials to be conducted in children and adolescents with Alport syndrome.