Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.
| Title: | Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome. |
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| Authors: | Gross O; Clinic of Nephrology and Rheumatology, University Medicine Goettingen, Goettingen, Germany.; Kashtan CE; Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA.; Rheault MN; Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA.; Flinter F; Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Savige J; Melbourne Health, The University of Melbourne, Parkville, VIC, Australia.; Miner JH; Division of Nephrology, Washington University School of Medicine, St Louis, MO, USA.; Torra R; Inherited Kidney Diseases, Nephrology Department, Fundació Puigvert, IIB Sant Pau, Universitat Autònoma de Barcelona and REDINREN, Barcelona, Spain.; Ars E; Inherited Kidney Diseases, Nephrology Department, Fundació Puigvert, IIB Sant Pau, Universitat Autònoma de Barcelona and REDINREN, Barcelona, Spain.; Deltas C; Molecular Medicine Research Center, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus.; Savva I; Molecular Medicine Research Center, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus.; Perin L; University of Southern California, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Renieri A; Medical Genetics Unit, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Ariani F; Medical Genetics Unit, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Mari F; Medical Genetics Unit, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Baigent C; Clinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.; Judge P; Clinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.; Knebelman B; Division de Néphrologie, Hôpital Necker, Assistance Publique-Hôpitaux de Paris, Paris, France.; Université Paris Descartes, Paris, France.; Heidet L; Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA) Service de Néphrologie Pédiatrique, Clinique Maurice Lamy, Hôpital Necker-Enfants Malades, Paris, France.; Lagas S; Alport Syndrome Foundation, Phoenix, AZ, USA.; Blatt D; Alport Foundation of Australia, Valentine, NSW, Australia.; Ding J; Pediatric Department, Peking University First Hospital, Beijing, China.; Zhang Y; Pediatric Department, Peking University First Hospital, Beijing, China.; Gale DP; University College London-Centre for Nephrology, London, UK.; Prunotto M; Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Roche Pharma Research & Early Development, Basel, Switzerland.; Xue Y; Rare Disease Group-Therapeutic Area, Global Clinical Development, Sanofi Genzyme, Naarden, The Netherlands.; Schachter AD; New Indications Discovery Unit, Translational Medicine, Novartis Institutes for BioMedical Research, Cambridge, MA, USA.; Morton LCG; Cardiovascular Research, Fibrosis Research, Regeneron Pharmaceuticals, Tarrytown, NY, USA.; Blem J; Clinical Development, Regulus Therapeutics, San Diego, CA, USA.; Huang M; Clinical Development, Regulus Therapeutics, San Diego, CA, USA.; Liu S; Department of Rare Diseases, Sanofi-Genzyme R&D Center, Framingham, MA, USA.; Vallee S; Discovery Biology, Shire, Lexington, MA, USA.; Renault D; Association for Information and Research on Genetic Renal Diseases (AIRG)-France, Paris, France.; Federation of European Associations of patients affected by Genetic Renal Diseases, FEDERG, Brussels, Belgium.; Schifter J; Alport Israel, Israel.; Skelding J; Alport UK, Tetbury, UK.; Gear S; Alport UK, Tetbury, UK.; Friede T; Department of Medical Statistics, University Medical Center Goettingen, Goettingen, Germany.; Turner AN; Renal Medicine, Royal Infirmary, University of Edinburgh, Edinburgh, UK.; Lennon R; Wellcome Trust Centre for Cell-Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester, UK. |
| Source: | Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association [Nephrol Dial Transplant] 2017 Jun 01; Vol. 32 (6), pp. 916-924. |
| Publication Type: | Journal Article |
| Language: | English |
| Journal Info: | Publisher: Oxford University Press Country of Publication: England NLM ID: 8706402 Publication Model: Print Cited Medium: Internet ISSN: 1460-2385 (Electronic) Linking ISSN: 09310509 NLM ISO Abbreviation: Nephrol Dial Transplant Subsets: MEDLINE |
| Imprint Name(s): | Publication: Oxford : Oxford University Press; Original Publication: [Berlin ; New York, NY] : Springer International, [c1986- |
| MeSH Terms: | Nephritis, Hereditary/*genetics; Collagen Type IV/genetics ; Nephritis, Hereditary/therapy ; Animals ; Genetic Therapy ; Humans ; Mutation ; Needs Assessment ; Podocytes ; Quality Improvement |
| 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 α3α4α5(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.; (© The Author 2016. Published by Oxford University Press on behalf of ERAEDTA.) |
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| Grant Information: | 090006 United Kingdom WT_ Wellcome Trust; G1002528 United Kingdom MRC_ Medical Research Council; MC_U137686849 United Kingdom MRC_ Medical Research Council; MC_UU_12026/6 United Kingdom MRC_ Medical Research Council |
| Contributed Indexing: | Keywords: Alport syndrome; chronic kidney disease; guidelines; hereditary kidney disease; nephroprotection |
| Substance Nomenclature: | 0 (Collagen Type IV) |
| Entry Date(s): | Date Created: 20160519 Date Completed: 20180111 Latest Revision: 20250529 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC5837236 |
| DOI: | 10.1093/ndt/gfw095 |
| PMID: | 27190345 |
| Database: | MEDLINE |
Journal Article