Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: Report from the 2015 International Workshop on Alport Syndrome

Oliver Gross, Clifford E. Kashtan, Michelle N. Rheault, Frances Flinter, Judith Savige, Jeffrey H. Miner, Roser Torra, Elisabet Ars, Constantinos Deltas, Isavella Savva, Laura Perin, Alessandra Renieri, Francesca Ariani, Francesca Mari, Colin Baigent, Parminder Judge, Bertrand Knebelman, Laurence Heidet, Sharon Lagas, Dave BlattJie Ding, Yanqin Zhang, Daniel P. Gale, Marco Prunotto, Yong Xue, Asher D. Schachter, Lori C.G. Morton, Jacqui Blem, Michael Huang, Shiguang Liu, Sebastien Vallee, Daniel Renault, Julia Schifter, Jules Skelding, Susie Gear, Tim Friede, A. Neil Turner, Rachel Lennon

Research output: Contribution to journalReview article

28 Scopus citations

Abstract

Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy variably associated with hearing loss and anterior lenticonus. It is caused by mutations in the COL4A3, COL4A4 or COL4A5 genes encoding the a3a4a5(IV) collagen heterotrimer. AS is rare, but it accounts for >1% of patients receiving renal replacement therapy. Angiotensin-converting enzyme inhibition slows, but does not stop, the progression to renal failure; therefore, there is an urgent requirement to expand and intensify research towards discovering 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 summarizes the most important priority areas including (i) understanding the crucial role of podocyte protection and regeneration, (ii) targeting mutations by new molecular techniques for new animal models and potential gene therapy, (iii) creating optimal interaction between nephrologists and geneticists for early diagnosis, (iv) establishing standards for mutation screening and databases, (v) improving widespread accessibility to current standards of clinical care, (vi) improving collaboration with the pharmaceutical/biotech industry to investigate new therapies, (vii) research in hearing loss as a huge unmet need in Alport patients and (viii) the need to evaluate the risk and benefit of novel (including 'repurposing') therapies on an international basis.

Original languageEnglish (US)
Pages (from-to)916-924
Number of pages9
JournalNephrology Dialysis Transplantation
Volume32
Issue number6
DOIs
StatePublished - 2017

Keywords

  • Alport syndrome
  • Chronic kidney disease
  • Guidelines
  • Hereditary kidney disease
  • Nephroprotection

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    Gross, O., Kashtan, C. E., Rheault, M. N., Flinter, F., Savige, J., Miner, J. H., Torra, R., Ars, E., Deltas, C., Savva, I., Perin, L., Renieri, A., Ariani, F., Mari, F., Baigent, C., Judge, P., Knebelman, B., Heidet, L., Lagas, S., ... Lennon, R. (2017). Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: Report from the 2015 International Workshop on Alport Syndrome. Nephrology Dialysis Transplantation, 32(6), 916-924. https://doi.org/10.1093/ndt/gfw095