TY - JOUR
T1 - Advances and unmet needs in genetic, basic and clinical science in Alport syndrome
T2 - Report from the 2015 International Workshop on Alport Syndrome
AU - Gross, Oliver
AU - Kashtan, Clifford E.
AU - Rheault, Michelle N.
AU - Flinter, Frances
AU - Savige, Judith
AU - Miner, Jeffrey H.
AU - Torra, Roser
AU - Ars, Elisabet
AU - Deltas, Constantinos
AU - Savva, Isavella
AU - Perin, Laura
AU - Renieri, Alessandra
AU - Ariani, Francesca
AU - Mari, Francesca
AU - Baigent, Colin
AU - Judge, Parminder
AU - Knebelman, Bertrand
AU - Heidet, Laurence
AU - Lagas, Sharon
AU - Blatt, Dave
AU - Ding, Jie
AU - Zhang, Yanqin
AU - Gale, Daniel P.
AU - Prunotto, Marco
AU - Xue, Yong
AU - Schachter, Asher D.
AU - Morton, Lori C.G.
AU - Blem, Jacqui
AU - Huang, Michael
AU - Liu, Shiguang
AU - Vallee, Sebastien
AU - Renault, Daniel
AU - Schifter, Julia
AU - Skelding, Jules
AU - Gear, Susie
AU - Friede, Tim
AU - Turner, A. Neil
AU - Lennon, Rachel
N1 - Publisher Copyright:
© The Author 2016.
PY - 2017
Y1 - 2017
N2 - 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.
AB - 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.
KW - Alport syndrome
KW - Chronic kidney disease
KW - Guidelines
KW - Hereditary kidney disease
KW - Nephroprotection
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U2 - 10.1093/ndt/gfw095
DO - 10.1093/ndt/gfw095
M3 - Review article
C2 - 27190345
AN - SCOPUS:85021101884
SN - 0931-0509
VL - 32
SP - 916
EP - 924
JO - Nephrology Dialysis Transplantation
JF - Nephrology Dialysis Transplantation
IS - 6
ER -