The importance of clinician, patient and researcher collaborations in Alport syndrome

• DOI: 10.1007/s00467-019-04241-7
• Publication Date: 2019-05-01T07:03:22Z
• Authors: Michelle N. Rheault; Judith Savige; Michael J. Randles; André Weinstock; Melissa Stepney; A Neil Turner; Gina Parziale; Oliver Gross; Frances A Flinter; Jeffrey H Miner; Sharon Lagas; Susie Gear; Rachel Lennon
• Keywords: Collagen Type IV; 0301 basic medicine; Basement membrane; Biomedical Research; COL4A3; 610; Angiotensin-Converting Enzyme Inhibitors; Nephritis, Hereditary; Review; Type IV collagen; Autoantigens; Pediatrics; 03 medical and health sciences; Rare Diseases; COL4A4; Humans; COL4A5; Renal Insufficiency, Chronic; Child; Intersectoral Collaboration; Societies, Medical; Clinical Trials as Topic; Therapies, Investigational; Congresses as Topic; 3. Good health; Renal Replacement Therapy; Nephrology; Mutation; Practice Guidelines as Topic; Patient Participation; Alport syndrome

Alport syndrome is caused by mutations in the genes COL4A3, COL4A4 or COL4A5 and is characterised by progressive glomerular disease, sensorineural hearing loss and ocular defects. Occurring in less than 1:5000, Alport syndrome is a rare genetic disorder but still accounts for > 1% of the prevalent population receiving renal replacement therapy. There is also increasing awareness about the risk of chronic kidney disease in individuals with heterozygous mutations in Alport syndrome genes. The mainstay of current therapy is the use of angiotensin-converting enzyme inhibitors and angiotensin receptor blockers, yet potential new therapies are now entering clinical trials. The 2017 International Workshop on Alport Syndrome in Glasgow was a pre-conference workshop ahead of the 50th anniversary meeting of the European Society for Pediatric Nephrology. It focussed on updates in clinical practice, genetics and basic science and also incorporated patient perspectives. More than 80 international experts including clinicians, geneticists, researchers from academia and industry, and patient representatives took part in panel discussions and breakout groups. This report summarises the workshop proceedings and the relevant contemporary literature. It highlights the unique clinician, patient and researcher collaborations achieved by regular engagement between the groups.