Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.
Identifieur interne : 001222 ( Main/Exploration ); précédent : 001221; suivant : 001223Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.
Auteurs : Oliver Gross [Allemagne] ; Clifford E. Kashtan [États-Unis] ; Michelle N. Rheault [États-Unis] ; Frances Flinter [Royaume-Uni] ; Judith Savige [Australie] ; Jeffrey H. Miner [États-Unis] ; Roser Torra [Espagne] ; Elisabet Ars [Espagne] ; Constantinos Deltas [Chypre (pays)] ; Isavella Savva [Chypre (pays)] ; Laura Perin [États-Unis] ; Alessandra Renieri [Italie] ; Francesca Ariani [Italie] ; Francesca Mari [Italie] ; Colin Baigent [Royaume-Uni] ; Parminder Judge [Royaume-Uni] ; Bertrand Knebelman [France] ; Laurence Heidet [France] ; Sharon Lagas [États-Unis] ; Dave Blatt [Australie] ; Jie Ding [République populaire de Chine] ; Yanqin Zhang [République populaire de Chine] ; Daniel P. Gale [Royaume-Uni] ; Marco Prunotto [Suisse] ; Yong Xue [Pays-Bas] ; Asher D. Schachter [États-Unis] ; Lori C G. Morton [États-Unis] ; Jacqui Blem [États-Unis] ; Michael Huang [États-Unis] ; Shiguang Liu [États-Unis] ; Sebastien Vallee [États-Unis] ; Daniel Renault [France] ; Julia Schifter [Israël] ; Jules Skelding [Royaume-Uni] ; Susie Gear [Royaume-Uni] ; Tim Friede [Allemagne] ; A Neil Turner [Royaume-Uni] ; Rachel Lennon [Royaume-Uni]Source :
- Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association [ 1460-2385 ] ; 2017.
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.
DOI: 10.1093/ndt/gfw095
PubMed: 27190345
Affiliations:
- Allemagne, Australie, Chypre (pays), Espagne, France, Israël, Italie, Pays-Bas, Royaume-Uni, République populaire de Chine, Suisse, États-Unis
- Angleterre, Arizona, Californie, Catalogne, Grand Londres, Grand Manchester, Massachusetts, Minnesota, Missouri (État), Oxfordshire, Victoria (État), Écosse, État de New York, Île-de-France
- Barcelone, Londres, Los Angeles, Manchester, Melbourne, Oxford, Paris, Pékin, Saint-Louis (Missouri), Édimbourg
- Université d'Oxford, Université d'Édimbourg, Université de Californie du Sud, Université de Manchester, Université de Melbourne, École de médecine (Université Washington de Saint-Louis)
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type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Schifter, Julia" sort="Schifter, Julia" uniqKey="Schifter J" first="Julia" last="Schifter">Julia Schifter</name><affiliation wicri:level="1"><nlm:affiliation>Alport Israel, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Alport Israel</wicri:regionArea></affiliation></author><author><name sortKey="Skelding, Jules" sort="Skelding, Jules" uniqKey="Skelding J" first="Jules" last="Skelding">Jules Skelding</name><affiliation wicri:level="1"><nlm:affiliation>Alport UK, Tetbury, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Alport UK, Tetbury</wicri:regionArea><wicri:noRegion>Tetbury</wicri:noRegion></affiliation></author><author><name sortKey="Gear, Susie" sort="Gear, Susie" uniqKey="Gear S" first="Susie" last="Gear">Susie Gear</name><affiliation wicri:level="1"><nlm:affiliation>Alport UK, Tetbury, UK.</nlm:affiliation><country 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UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Renal Medicine, Royal Infirmary, University of Edinburgh, Edinburgh</wicri:regionArea><placeName><settlement type="city">Édimbourg</settlement><region type="country">Écosse</region><settlement type="city">Édimbourg</settlement></placeName><orgName type="university">Université d'Édimbourg</orgName></affiliation></author><author><name sortKey="Lennon, Rachel" sort="Lennon, Rachel" uniqKey="Lennon R" first="Rachel" last="Lennon">Rachel Lennon</name><affiliation wicri:level="4"><nlm:affiliation>Wellcome Trust Centre for Cell-Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Wellcome Trust Centre for Cell-Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:27190345</idno><idno type="pmid">27190345</idno><idno type="doi">10.1093/ndt/gfw095</idno><idno type="wicri:Area/PubMed/Corpus">000B69</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000B69</idno><idno type="wicri:Area/PubMed/Curation">000B66</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000B66</idno><idno type="wicri:Area/PubMed/Checkpoint">000B66</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000B66</idno><idno type="wicri:Area/Ncbi/Merge">003561</idno><idno type="wicri:Area/Ncbi/Curation">003561</idno><idno type="wicri:Area/Ncbi/Checkpoint">003561</idno><idno type="wicri:Area/Main/Merge">001217</idno><idno type="wicri:Area/Main/Curation">001222</idno><idno type="wicri:Area/Main/Exploration">001222</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.</title><author><name sortKey="Gross, Oliver" sort="Gross, Oliver" uniqKey="Gross O" first="Oliver" last="Gross">Oliver Gross</name><affiliation wicri:level="1"><nlm:affiliation>Clinic of Nephrology and Rheumatology, University Medicine Goettingen, Goettingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Clinic of Nephrology and Rheumatology, University Medicine Goettingen, Goettingen</wicri:regionArea><wicri:noRegion>Goettingen</wicri:noRegion><wicri:noRegion>Goettingen</wicri:noRegion><wicri:noRegion>Goettingen</wicri:noRegion></affiliation></author><author><name sortKey="Kashtan, Clifford E" sort="Kashtan, Clifford E" uniqKey="Kashtan C" first="Clifford E" last="Kashtan">Clifford E. Kashtan</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Rheault, Michelle N" sort="Rheault, Michelle N" uniqKey="Rheault M" first="Michelle N" last="Rheault">Michelle N. Rheault</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Flinter, Frances" sort="Flinter, Frances" uniqKey="Flinter F" first="Frances" last="Flinter">Frances Flinter</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Savige, Judith" sort="Savige, Judith" uniqKey="Savige J" first="Judith" last="Savige">Judith Savige</name><affiliation wicri:level="4"><nlm:affiliation>Melbourne Health, The University of Melbourne, Parkville, VIC, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Melbourne Health, The University of Melbourne, Parkville, VIC</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Miner, Jeffrey H" sort="Miner, Jeffrey H" uniqKey="Miner J" first="Jeffrey H" last="Miner">Jeffrey H. Miner</name><affiliation wicri:level="4"><nlm:affiliation>Division of Nephrology, Washington University School of Medicine, St Louis, MO, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Nephrology, Washington University School of Medicine, St Louis, MO</wicri:regionArea><placeName><region type="state">Missouri (État)</region><settlement type="city">Saint-Louis (Missouri)</settlement></placeName><orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName></affiliation></author><author><name sortKey="Torra, Roser" sort="Torra, Roser" uniqKey="Torra R" first="Roser" last="Torra">Roser Torra</name><affiliation wicri:level="3"><nlm:affiliation>Inherited Kidney Diseases, Nephrology Department, Fundació Puigvert, IIB Sant Pau, Universitat Autònoma de Barcelona and REDINREN, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Inherited Kidney Diseases, Nephrology Department, Fundació Puigvert, IIB Sant Pau, Universitat Autònoma de Barcelona and REDINREN, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Ars, Elisabet" sort="Ars, Elisabet" uniqKey="Ars E" first="Elisabet" last="Ars">Elisabet Ars</name><affiliation wicri:level="3"><nlm:affiliation>Inherited Kidney Diseases, Nephrology Department, Fundació Puigvert, IIB Sant Pau, Universitat Autònoma de Barcelona and REDINREN, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Inherited Kidney Diseases, Nephrology Department, Fundació Puigvert, IIB Sant Pau, Universitat Autònoma de Barcelona and REDINREN, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Deltas, Constantinos" sort="Deltas, Constantinos" uniqKey="Deltas C" first="Constantinos" last="Deltas">Constantinos Deltas</name><affiliation wicri:level="1"><nlm:affiliation>Molecular Medicine Research Center, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus.</nlm:affiliation><country xml:lang="fr">Chypre (pays)</country><wicri:regionArea>Molecular Medicine Research Center, Department of Biological Sciences, University of Cyprus, Nicosia</wicri:regionArea><wicri:noRegion>Nicosia</wicri:noRegion></affiliation></author><author><name sortKey="Savva, Isavella" sort="Savva, Isavella" uniqKey="Savva I" first="Isavella" last="Savva">Isavella Savva</name><affiliation wicri:level="1"><nlm:affiliation>Molecular Medicine Research Center, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus.</nlm:affiliation><country xml:lang="fr">Chypre (pays)</country><wicri:regionArea>Molecular Medicine Research Center, Department of Biological Sciences, University of Cyprus, Nicosia</wicri:regionArea><wicri:noRegion>Nicosia</wicri:noRegion></affiliation></author><author><name sortKey="Perin, Laura" sort="Perin, Laura" uniqKey="Perin L" first="Laura" last="Perin">Laura Perin</name><affiliation wicri:level="4"><nlm:affiliation>University of Southern California, Children's Hospital Los Angeles, Los Angeles, CA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of Southern California, Children's Hospital Los Angeles, Los Angeles, CA</wicri:regionArea><placeName><region type="state">Californie</region><settlement type="city">Los Angeles</settlement></placeName><orgName type="university">Université de Californie du Sud</orgName></affiliation></author><author><name sortKey="Renieri, Alessandra" sort="Renieri, Alessandra" uniqKey="Renieri A" first="Alessandra" last="Renieri">Alessandra Renieri</name><affiliation wicri:level="1"><nlm:affiliation>Medical Genetics Unit, University of Siena, Siena, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Medical Genetics Unit, University of Siena, Siena</wicri:regionArea><wicri:noRegion>Siena</wicri:noRegion></affiliation></author><author><name sortKey="Ariani, Francesca" sort="Ariani, Francesca" uniqKey="Ariani F" first="Francesca" last="Ariani">Francesca Ariani</name><affiliation wicri:level="1"><nlm:affiliation>Medical Genetics Unit, University of Siena, Siena, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Medical Genetics Unit, University of Siena, Siena</wicri:regionArea><wicri:noRegion>Siena</wicri:noRegion></affiliation></author><author><name sortKey="Mari, Francesca" sort="Mari, Francesca" uniqKey="Mari F" first="Francesca" last="Mari">Francesca Mari</name><affiliation wicri:level="1"><nlm:affiliation>Medical Genetics Unit, University of Siena, Siena, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Medical Genetics Unit, University of Siena, Siena</wicri:regionArea><wicri:noRegion>Siena</wicri:noRegion></affiliation></author><author><name sortKey="Baigent, Colin" sort="Baigent, Colin" uniqKey="Baigent C" first="Colin" last="Baigent">Colin Baigent</name><affiliation wicri:level="4"><nlm:affiliation>Clinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Clinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford</wicri:regionArea><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region><settlement type="city">Oxford</settlement></placeName><orgName type="university">Université d'Oxford</orgName></affiliation></author><author><name sortKey="Judge, Parminder" sort="Judge, Parminder" uniqKey="Judge P" first="Parminder" last="Judge">Parminder Judge</name><affiliation wicri:level="4"><nlm:affiliation>Clinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Clinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford</wicri:regionArea><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region><settlement type="city">Oxford</settlement></placeName><orgName type="university">Université d'Oxford</orgName></affiliation></author><author><name sortKey="Knebelman, Bertrand" sort="Knebelman, Bertrand" uniqKey="Knebelman B" first="Bertrand" last="Knebelman">Bertrand Knebelman</name><affiliation wicri:level="3"><nlm:affiliation>Division de Néphrologie, Hôpital Necker, Assistance Publique-Hôpitaux de Paris, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Division de Néphrologie, Hôpital Necker, Assistance Publique-Hôpitaux de Paris, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Heidet, Laurence" sort="Heidet, Laurence" uniqKey="Heidet L" first="Laurence" last="Heidet">Laurence Heidet</name><affiliation wicri:level="3"><nlm:affiliation>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.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>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</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Lagas, Sharon" sort="Lagas, Sharon" uniqKey="Lagas S" first="Sharon" last="Lagas">Sharon Lagas</name><affiliation wicri:level="2"><nlm:affiliation>Alport Syndrome Foundation, Phoenix, AZ, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Alport Syndrome Foundation, Phoenix, AZ</wicri:regionArea><placeName><region type="state">Arizona</region></placeName></affiliation></author><author><name sortKey="Blatt, Dave" sort="Blatt, Dave" uniqKey="Blatt D" first="Dave" last="Blatt">Dave Blatt</name><affiliation wicri:level="1"><nlm:affiliation>Alport Foundation of Australia, Valentine, NSW, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Alport Foundation of Australia, Valentine, NSW</wicri:regionArea><wicri:noRegion>NSW</wicri:noRegion></affiliation></author><author><name sortKey="Ding, Jie" sort="Ding, Jie" uniqKey="Ding J" first="Jie" last="Ding">Jie Ding</name><affiliation wicri:level="3"><nlm:affiliation>Pediatric Department, Peking University First Hospital, Beijing, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Pediatric Department, Peking University First Hospital, Beijing</wicri:regionArea><placeName><settlement type="city">Pékin</settlement></placeName></affiliation></author><author><name sortKey="Zhang, Yanqin" sort="Zhang, Yanqin" uniqKey="Zhang Y" first="Yanqin" last="Zhang">Yanqin Zhang</name><affiliation wicri:level="3"><nlm:affiliation>Pediatric Department, Peking University First Hospital, Beijing, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Pediatric Department, Peking University First Hospital, Beijing</wicri:regionArea><placeName><settlement type="city">Pékin</settlement></placeName></affiliation></author><author><name sortKey="Gale, Daniel P" sort="Gale, Daniel P" uniqKey="Gale D" first="Daniel P" last="Gale">Daniel P. Gale</name><affiliation wicri:level="3"><nlm:affiliation>University College London-Centre for Nephrology, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University College London-Centre for Nephrology, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Prunotto, Marco" sort="Prunotto, Marco" uniqKey="Prunotto M" first="Marco" last="Prunotto">Marco Prunotto</name><affiliation wicri:level="1"><nlm:affiliation>Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Roche Pharma Research & Early Development, Basel, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Roche Pharma Research & Early Development, Basel</wicri:regionArea><wicri:noRegion>Basel</wicri:noRegion></affiliation></author><author><name sortKey="Xue, Yong" sort="Xue, Yong" uniqKey="Xue Y" first="Yong" last="Xue">Yong Xue</name><affiliation wicri:level="1"><nlm:affiliation>Rare Disease Group-Therapeutic Area, Global Clinical Development, Sanofi Genzyme, Naarden, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Rare Disease Group-Therapeutic Area, Global Clinical Development, Sanofi Genzyme, Naarden</wicri:regionArea><wicri:noRegion>Naarden</wicri:noRegion></affiliation></author><author><name sortKey="Schachter, Asher D" sort="Schachter, Asher D" uniqKey="Schachter A" first="Asher D" last="Schachter">Asher D. Schachter</name><affiliation wicri:level="2"><nlm:affiliation>New Indications Discovery Unit, Translational Medicine, Novartis Institutes for BioMedical Research, Cambridge, MA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>New Indications Discovery Unit, Translational Medicine, Novartis Institutes for BioMedical Research, Cambridge, MA</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Morton, Lori C G" sort="Morton, Lori C G" uniqKey="Morton L" first="Lori C G" last="Morton">Lori C G. Morton</name><affiliation wicri:level="2"><nlm:affiliation>Cardiovascular Research, Fibrosis Research, Regeneron Pharmaceuticals, Tarrytown, NY, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Cardiovascular Research, Fibrosis Research, Regeneron Pharmaceuticals, Tarrytown, NY</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Blem, Jacqui" sort="Blem, Jacqui" uniqKey="Blem J" first="Jacqui" last="Blem">Jacqui Blem</name><affiliation wicri:level="2"><nlm:affiliation>Clinical Development, Regulus Therapeutics, San Diego, CA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Clinical Development, Regulus Therapeutics, San Diego, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Huang, Michael" sort="Huang, Michael" uniqKey="Huang M" first="Michael" last="Huang">Michael Huang</name><affiliation wicri:level="2"><nlm:affiliation>Clinical Development, Regulus Therapeutics, San Diego, CA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Clinical Development, Regulus Therapeutics, San Diego, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Liu, Shiguang" sort="Liu, Shiguang" uniqKey="Liu S" first="Shiguang" last="Liu">Shiguang Liu</name><affiliation wicri:level="2"><nlm:affiliation>Department of Rare Diseases, Sanofi-Genzyme R&D Center, Framingham, MA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Rare Diseases, Sanofi-Genzyme R&D Center, Framingham, MA</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Vallee, Sebastien" sort="Vallee, Sebastien" uniqKey="Vallee S" first="Sebastien" last="Vallee">Sebastien Vallee</name><affiliation wicri:level="2"><nlm:affiliation>Discovery Biology, Shire, Lexington, MA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Discovery Biology, Shire, Lexington, MA</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Renault, Daniel" sort="Renault, Daniel" uniqKey="Renault D" first="Daniel" last="Renault">Daniel Renault</name><affiliation wicri:level="3"><nlm:affiliation>Association for Information and Research on Genetic Renal Diseases (AIRG)-France, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Association for Information and Research on Genetic Renal Diseases (AIRG)-France, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Schifter, Julia" sort="Schifter, Julia" uniqKey="Schifter J" first="Julia" last="Schifter">Julia Schifter</name><affiliation wicri:level="1"><nlm:affiliation>Alport Israel, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Alport Israel</wicri:regionArea></affiliation></author><author><name sortKey="Skelding, Jules" sort="Skelding, Jules" uniqKey="Skelding J" first="Jules" last="Skelding">Jules Skelding</name><affiliation wicri:level="1"><nlm:affiliation>Alport UK, Tetbury, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Alport UK, Tetbury</wicri:regionArea><wicri:noRegion>Tetbury</wicri:noRegion></affiliation></author><author><name sortKey="Gear, Susie" sort="Gear, Susie" uniqKey="Gear S" first="Susie" last="Gear">Susie Gear</name><affiliation wicri:level="1"><nlm:affiliation>Alport UK, Tetbury, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Alport UK, Tetbury</wicri:regionArea><wicri:noRegion>Tetbury</wicri:noRegion></affiliation></author><author><name sortKey="Friede, Tim" sort="Friede, Tim" uniqKey="Friede T" first="Tim" last="Friede">Tim Friede</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Statistics, University Medical Center Goettingen, Goettingen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Medical Statistics, University Medical Center Goettingen, Goettingen</wicri:regionArea><wicri:noRegion>Goettingen</wicri:noRegion><wicri:noRegion>Goettingen</wicri:noRegion><wicri:noRegion>Goettingen</wicri:noRegion></affiliation></author><author><name sortKey="Turner, A Neil" sort="Turner, A Neil" uniqKey="Turner A" first="A Neil" last="Turner">A Neil Turner</name><affiliation wicri:level="4"><nlm:affiliation>Renal Medicine, Royal Infirmary, University of Edinburgh, Edinburgh, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Renal Medicine, Royal Infirmary, University of Edinburgh, Edinburgh</wicri:regionArea><placeName><settlement type="city">Édimbourg</settlement><region type="country">Écosse</region><settlement type="city">Édimbourg</settlement></placeName><orgName type="university">Université d'Édimbourg</orgName></affiliation></author><author><name sortKey="Lennon, Rachel" sort="Lennon, Rachel" uniqKey="Lennon R" first="Rachel" last="Lennon">Rachel Lennon</name><affiliation wicri:level="4"><nlm:affiliation>Wellcome Trust Centre for Cell-Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Wellcome Trust Centre for Cell-Matrix Research, Faculty of Life Sciences, University of Manchester, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author></analytic><series><title level="j">Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association</title><idno type="eISSN">1460-2385</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Chypre (pays)</li><li>Espagne</li><li>France</li><li>Israël</li><li>Italie</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>République populaire de Chine</li><li>Suisse</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Arizona</li><li>Californie</li><li>Catalogne</li><li>Grand Londres</li><li>Grand Manchester</li><li>Massachusetts</li><li>Minnesota</li><li>Missouri (État)</li><li>Oxfordshire</li><li>Victoria (État)</li><li>Écosse</li><li>État de New York</li><li>Île-de-France</li></region><settlement><li>Barcelone</li><li>Londres</li><li>Los Angeles</li><li>Manchester</li><li>Melbourne</li><li>Oxford</li><li>Paris</li><li>Pékin</li><li>Saint-Louis (Missouri)</li><li>Édimbourg</li></settlement><orgName><li>Université d'Oxford</li><li>Université d'Édimbourg</li><li>Université de Californie du Sud</li><li>Université de Manchester</li><li>Université de Melbourne</li><li>École de médecine (Université Washington de Saint-Louis)</li></orgName></list><tree><country name="Allemagne"><noRegion><name sortKey="Gross, Oliver" sort="Gross, Oliver" uniqKey="Gross O" first="Oliver" last="Gross">Oliver Gross</name></noRegion><name sortKey="Friede, Tim" sort="Friede, Tim" uniqKey="Friede T" first="Tim" last="Friede">Tim Friede</name></country><country name="États-Unis"><region name="Minnesota"><name sortKey="Kashtan, Clifford E" sort="Kashtan, Clifford E" uniqKey="Kashtan C" first="Clifford E" last="Kashtan">Clifford E. Kashtan</name></region><name sortKey="Blem, Jacqui" sort="Blem, Jacqui" uniqKey="Blem J" first="Jacqui" last="Blem">Jacqui Blem</name><name sortKey="Huang, Michael" sort="Huang, Michael" uniqKey="Huang M" first="Michael" last="Huang">Michael Huang</name><name sortKey="Lagas, Sharon" sort="Lagas, Sharon" uniqKey="Lagas S" first="Sharon" last="Lagas">Sharon Lagas</name><name sortKey="Liu, Shiguang" sort="Liu, Shiguang" uniqKey="Liu S" first="Shiguang" last="Liu">Shiguang Liu</name><name sortKey="Miner, Jeffrey H" sort="Miner, Jeffrey H" uniqKey="Miner J" first="Jeffrey H" last="Miner">Jeffrey H. Miner</name><name sortKey="Morton, Lori C G" sort="Morton, Lori C G" uniqKey="Morton L" first="Lori C G" last="Morton">Lori C G. Morton</name><name sortKey="Perin, Laura" sort="Perin, Laura" uniqKey="Perin L" first="Laura" last="Perin">Laura Perin</name><name sortKey="Rheault, Michelle N" sort="Rheault, Michelle N" uniqKey="Rheault M" first="Michelle N" last="Rheault">Michelle N. Rheault</name><name sortKey="Schachter, Asher D" sort="Schachter, Asher D" uniqKey="Schachter A" first="Asher D" last="Schachter">Asher D. Schachter</name><name sortKey="Vallee, Sebastien" sort="Vallee, Sebastien" uniqKey="Vallee S" first="Sebastien" last="Vallee">Sebastien Vallee</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Flinter, Frances" sort="Flinter, Frances" uniqKey="Flinter F" first="Frances" last="Flinter">Frances Flinter</name></region><name sortKey="Baigent, Colin" sort="Baigent, Colin" uniqKey="Baigent C" first="Colin" last="Baigent">Colin Baigent</name><name sortKey="Gale, Daniel P" sort="Gale, Daniel P" uniqKey="Gale D" first="Daniel P" last="Gale">Daniel P. Gale</name><name sortKey="Gear, Susie" sort="Gear, Susie" uniqKey="Gear S" first="Susie" last="Gear">Susie Gear</name><name sortKey="Judge, Parminder" sort="Judge, Parminder" uniqKey="Judge P" first="Parminder" last="Judge">Parminder Judge</name><name sortKey="Lennon, Rachel" sort="Lennon, Rachel" uniqKey="Lennon R" first="Rachel" last="Lennon">Rachel Lennon</name><name sortKey="Skelding, Jules" sort="Skelding, Jules" uniqKey="Skelding J" first="Jules" last="Skelding">Jules Skelding</name><name sortKey="Turner, A Neil" sort="Turner, A Neil" uniqKey="Turner A" first="A Neil" last="Turner">A Neil Turner</name></country><country name="Australie"><region name="Victoria (État)"><name sortKey="Savige, Judith" sort="Savige, Judith" uniqKey="Savige J" first="Judith" last="Savige">Judith Savige</name></region><name sortKey="Blatt, Dave" sort="Blatt, Dave" uniqKey="Blatt D" first="Dave" last="Blatt">Dave Blatt</name></country><country name="Espagne"><region name="Catalogne"><name sortKey="Torra, Roser" sort="Torra, Roser" uniqKey="Torra R" first="Roser" last="Torra">Roser Torra</name></region><name sortKey="Ars, Elisabet" sort="Ars, Elisabet" uniqKey="Ars E" first="Elisabet" last="Ars">Elisabet Ars</name></country><country name="Chypre (pays)"><noRegion><name sortKey="Deltas, Constantinos" sort="Deltas, Constantinos" uniqKey="Deltas C" first="Constantinos" last="Deltas">Constantinos Deltas</name></noRegion><name sortKey="Savva, Isavella" sort="Savva, Isavella" uniqKey="Savva I" first="Isavella" last="Savva">Isavella Savva</name></country><country name="Italie"><noRegion><name sortKey="Renieri, Alessandra" sort="Renieri, Alessandra" uniqKey="Renieri A" first="Alessandra" last="Renieri">Alessandra Renieri</name></noRegion><name sortKey="Ariani, Francesca" sort="Ariani, Francesca" uniqKey="Ariani F" first="Francesca" last="Ariani">Francesca Ariani</name><name sortKey="Mari, Francesca" sort="Mari, Francesca" uniqKey="Mari F" first="Francesca" last="Mari">Francesca Mari</name></country><country name="France"><region name="Île-de-France"><name sortKey="Knebelman, Bertrand" sort="Knebelman, Bertrand" uniqKey="Knebelman B" first="Bertrand" last="Knebelman">Bertrand Knebelman</name></region><name sortKey="Heidet, Laurence" sort="Heidet, Laurence" uniqKey="Heidet L" first="Laurence" last="Heidet">Laurence Heidet</name><name sortKey="Renault, Daniel" sort="Renault, Daniel" uniqKey="Renault D" first="Daniel" last="Renault">Daniel Renault</name></country><country name="République populaire de Chine"><noRegion><name sortKey="Ding, Jie" sort="Ding, Jie" uniqKey="Ding J" first="Jie" last="Ding">Jie Ding</name></noRegion><name sortKey="Zhang, Yanqin" sort="Zhang, Yanqin" uniqKey="Zhang Y" first="Yanqin" last="Zhang">Yanqin Zhang</name></country><country name="Suisse"><noRegion><name sortKey="Prunotto, Marco" sort="Prunotto, Marco" uniqKey="Prunotto M" first="Marco" last="Prunotto">Marco Prunotto</name></noRegion></country><country name="Pays-Bas"><noRegion><name sortKey="Xue, Yong" sort="Xue, Yong" uniqKey="Xue Y" first="Yong" last="Xue">Yong Xue</name></noRegion></country><country name="Israël"><noRegion><name sortKey="Schifter, Julia" sort="Schifter, Julia" uniqKey="Schifter J" first="Julia" last="Schifter">Julia Schifter</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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