Schachter, Asher (2016) Advances and Unmet Needs in Genetics, Basic and Clinical Science in Alport syndrome Report from the 2015 International Workshop on Alport Syndrome. Nephrology Dialysis Transplantation.

Abstract

Alport syndrome is a genetic disease resulting in renal failure, hearing loss and anterior lenticonus. It is caused by mutations in the COL4A3, COL4A4, or COL4A5 genes encoding the 345(IV) collagen heterotrimer. Alport syndrome is rare, but accounts for more than 1% of patients receiving renal replacement therapy. Angiotensin converting enzyme inhibition slows, but does not stop, the inevitable progression to renal failure; therefore, there is an urgent requirement to expand and intensify research towards new therapeutic targets and new therapies.
The 2015 International Workshop on Alport Syndrome targeted unmet needs in basic science, genetics and diagnosis, clinical research, and current clinical care. In three intensive days, more than 100 international experts including physicians, geneticists, researchers from academia and industry, and patient representatives from all over the world participated in panel discussions and breakout groups. This report summarises the most important priority areas including (1) understanding the crucial role of podocyte protection and regeneration; (2) targeting mutations by new molecular techniques for new animal models and potential gene therapy; (3) creating optimal interaction between nephrologists and geneticists for early diagnosis; (4) establishing standards for mutation screening and databases; (5) improving widespread accessibility to current standards of clinical care; (6) improving collaboration with the pharma/biotech industry to investigate new therapies; (7) research in hearing loss as a huge unmet need in Alport patients; (8) the need to evaluate the risk and benefit of novel (including “repurposing”) therapies on an international basis.

Item Type:	Article
Keywords:	Alport syndrome, nephroprotection, guidelines, chronic kidney disease
Date Deposited:	28 Apr 2016 23:45
Last Modified:	28 Apr 2016 23:45
URI:	https://oak.novartis.com/id/eprint/28112