Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
Identifieur interne : 000667 ( PubMed/Checkpoint ); précédent : 000666; suivant : 000668Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
Auteurs : Derralynn A. Hughes [Royaume-Uni] ; Kathleen Nicholls [Australie] ; Suma P. Shankar [États-Unis] ; Gere Sunder-Plassmann [Autriche] ; David Koeller [États-Unis] ; Khan Nedd [États-Unis] ; Gerard Vockley [États-Unis] ; Takashi Hamazaki [États-Unis] ; Robin Lachmann [Royaume-Uni] ; Toya Ohashi [Japon] ; Iacopo Olivotto [Italie] ; Norio Sakai [Japon] ; Patrick Deegan [Royaume-Uni] ; David Dimmock [États-Unis] ; François Eyskens [Belgique] ; Dominique P. Germain [France] ; Ozlem Goker-Alpan [États-Unis] ; Eric Hachulla [France] ; Ana Jovanovic [Royaume-Uni] ; Charles M. Lourenco [Brésil] ; Ichiei Narita [Japon] ; Mark Thomas [Australie] ; William R. Wilcox [États-Unis] ; Daniel G. Bichet [Canada] ; Raphael Schiffmann [États-Unis] ; Elizabeth Ludington [États-Unis] ; Christopher Viereck [États-Unis] ; John Kirk [États-Unis] ; Julie Yu [États-Unis] ; Franklin Johnson [États-Unis] ; Pol Boudes [États-Unis] ; Elfrida R. Benjamin [États-Unis] ; David J. Lockhart [États-Unis] ; Carrolee Barlow [États-Unis] ; Nina Skuban [États-Unis] ; Jeffrey P. Castelli [États-Unis] ; Jay Barth [États-Unis] ; Ulla Feldt-Rasmussen [Danemark]Source :
- Journal of medical genetics [ 1468-6244 ] ; 2017.
Descripteurs français
- KwdFr :
- 1-Désoxynojirimycine (administration et posologie), 1-Désoxynojirimycine (analogues et dérivés), 1-Désoxynojirimycine (effets indésirables), Administration par voie orale, Adolescent, Adulte, Adulte d'âge moyen, Chaperons moléculaires (administration et posologie), Chaperons moléculaires (effets indésirables), Femelle, Humains, Lysosomes (anatomopathologie), Lysosomes (génétique), Maladie de Fabry (métabolisme), Maladie de Fabry (physiopathologie), Maladie de Fabry (traitement médicamenteux), Mâle, Résultat thérapeutique, Sujet âgé, Thérapie enzymatique substitutive (effets indésirables), alpha-Galactosidase (génétique).
- MESH :
- administration et posologie : 1-Désoxynojirimycine, Chaperons moléculaires.
- analogues et dérivés : 1-Désoxynojirimycine.
- anatomopathologie : Lysosomes.
- effets indésirables : 1-Désoxynojirimycine, Chaperons moléculaires, Thérapie enzymatique substitutive.
- génétique : Lysosomes, alpha-Galactosidase.
- métabolisme : Maladie de Fabry.
- physiopathologie : Maladie de Fabry.
- traitement médicamenteux : Maladie de Fabry.
- Administration par voie orale, Adolescent, Adulte, Adulte d'âge moyen, Femelle, Humains, Mâle, Résultat thérapeutique, Sujet âgé.
English descriptors
- KwdEn :
- 1-Deoxynojirimycin (administration & dosage), 1-Deoxynojirimycin (adverse effects), 1-Deoxynojirimycin (analogs & derivatives), Administration, Oral, Adolescent, Adult, Aged, Enzyme Replacement Therapy (adverse effects), Fabry Disease (drug therapy), Fabry Disease (metabolism), Fabry Disease (physiopathology), Female, Humans, Lysosomes (genetics), Lysosomes (pathology), Male, Middle Aged, Molecular Chaperones (administration & dosage), Molecular Chaperones (adverse effects), Treatment Outcome, alpha-Galactosidase (genetics).
- MESH :
- chemical , administration & dosage : 1-Deoxynojirimycin, Molecular Chaperones.
- chemical , adverse effects : 1-Deoxynojirimycin, Molecular Chaperones.
- chemical , analogs & derivatives : 1-Deoxynojirimycin.
- adverse effects : Enzyme Replacement Therapy.
- drug therapy : Fabry Disease.
- genetics : Lysosomes, alpha-Galactosidase.
- metabolism : Fabry Disease.
- pathology : Lysosomes.
- physiopathology : Fabry Disease.
- Administration, Oral, Adolescent, Adult, Aged, Female, Humans, Male, Middle Aged, Treatment Outcome.
Abstract
Fabry disease is an X-linked lysosomal storage disorder caused by GLA mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of lysosomal substrates. Migalastat, an oral pharmacological chaperone being developed as an alternative to intravenous enzyme replacement therapy (ERT), stabilises specific mutant (amenable) forms of α-Gal to facilitate normal lysosomal trafficking.
DOI: 10.1136/jmedgenet-2016-104178
PubMed: 27834756
Affiliations:
- Australie, Autriche, Belgique, Brésil, Canada, Danemark, France, Italie, Japon, Royaume-Uni, États-Unis
- Angleterre, Californie, Grand Londres, Géorgie (États-Unis), Hauts-de-France, Hovedstaden, Missouri (État), New Jersey, Nord-Pas-de-Calais, Oregon, Pennsylvanie, Région de Kantō, Texas, Vienne (Autriche), Virginie, Wisconsin, Île-de-France
- Copenhague, Lille, Londres, Paris, Portland, Tokyo, Vienne (Autriche)
- University College de Londres, Université des sciences et de la médecine de l'Oregon
Links toward previous steps (curation, corpus...)
Links to Exploration step
pubmed:27834756Le document en format XML
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Careggi Firenze, Firenze, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Departmento Cuore e vasi, A.O.U. 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Lockhart</name><affiliation wicri:level="2"><nlm:affiliation>TranscripTx, Inc., Sunnyvale, California, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>TranscripTx, Inc., Sunnyvale, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Barlow, Carrolee" sort="Barlow, Carrolee" uniqKey="Barlow C" first="Carrolee" last="Barlow">Carrolee Barlow</name><affiliation wicri:level="2"><nlm:affiliation>Parkinson's Institute and Clinical Center, Sunnyvale, California, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Parkinson's Institute and Clinical Center, Sunnyvale, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Skuban, Nina" sort="Skuban, Nina" uniqKey="Skuban N" first="Nina" last="Skuban">Nina Skuban</name><affiliation wicri:level="2"><nlm:affiliation>Amicus Therapeutics Inc., Cranbury, New Jersey, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Amicus Therapeutics Inc., Cranbury, New Jersey</wicri:regionArea><placeName><region type="state">New Jersey</region></placeName></affiliation></author><author><name sortKey="Castelli, Jeffrey P" sort="Castelli, Jeffrey P" uniqKey="Castelli J" first="Jeffrey P" last="Castelli">Jeffrey P. Castelli</name><affiliation wicri:level="2"><nlm:affiliation>Amicus Therapeutics Inc., Cranbury, New Jersey, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Amicus Therapeutics Inc., Cranbury, New Jersey</wicri:regionArea><placeName><region type="state">New Jersey</region></placeName></affiliation></author><author><name sortKey="Barth, Jay" sort="Barth, Jay" uniqKey="Barth J" first="Jay" last="Barth">Jay Barth</name><affiliation wicri:level="2"><nlm:affiliation>Amicus Therapeutics Inc., Cranbury, New Jersey, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Amicus Therapeutics Inc., Cranbury, New Jersey</wicri:regionArea><placeName><region type="state">New Jersey</region></placeName></affiliation></author><author><name sortKey="Feldt Rasmussen, Ulla" sort="Feldt Rasmussen, Ulla" uniqKey="Feldt Rasmussen U" first="Ulla" last="Feldt-Rasmussen">Ulla Feldt-Rasmussen</name><affiliation wicri:level="3"><nlm:affiliation>Department of Medical Endocrinology, Rigshospital, Copenhagen University Hospital, Copenhagen, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Medical Endocrinology, Rigshospital, Copenhagen University Hospital, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:27834756</idno><idno type="pmid">27834756</idno><idno type="doi">10.1136/jmedgenet-2016-104178</idno><idno type="wicri:Area/PubMed/Corpus">000E89</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000E89</idno><idno type="wicri:Area/PubMed/Curation">000E86</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000E86</idno><idno type="wicri:Area/PubMed/Checkpoint">000E86</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000E86</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.</title><author><name sortKey="Hughes, Derralynn A" sort="Hughes, Derralynn A" uniqKey="Hughes D" first="Derralynn A" last="Hughes">Derralynn A. Hughes</name><affiliation wicri:level="4"><nlm:affiliation>Department of Haematology, Royal Free London NHS Foundation Trust and University College London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Haematology, Royal Free London NHS Foundation Trust and University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></author><author><name sortKey="Nicholls, Kathleen" sort="Nicholls, Kathleen" uniqKey="Nicholls K" first="Kathleen" last="Nicholls">Kathleen Nicholls</name><affiliation wicri:level="1"><nlm:affiliation>Department of Nephrology, Royal Melbourne Hospital, Parkville, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Nephrology, Royal Melbourne Hospital, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Shankar, Suma P" sort="Shankar, Suma P" uniqKey="Shankar S" first="Suma P" last="Shankar">Suma P. Shankar</name><affiliation wicri:level="2"><nlm:affiliation>Section of Vitreoretinal Surgery & Diseases, Emory University, Atlanta, Georgia, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Section of Vitreoretinal Surgery & Diseases, Emory University, Atlanta, Georgia</wicri:regionArea><placeName><region type="state">Géorgie (États-Unis)</region></placeName></affiliation></author><author><name sortKey="Sunder Plassmann, Gere" sort="Sunder Plassmann, Gere" uniqKey="Sunder Plassmann G" first="Gere" last="Sunder-Plassmann">Gere Sunder-Plassmann</name><affiliation wicri:level="3"><nlm:affiliation>Division of Nephrology and Dialysis, Department of Medicine III, Medical University of Vienna, Vienna, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Division of Nephrology and Dialysis, Department of Medicine III, Medical University of Vienna, Vienna</wicri:regionArea><placeName><settlement type="city">Vienne (Autriche)</settlement><region nuts="2" type="province">Vienne (Autriche)</region></placeName></affiliation></author><author><name sortKey="Koeller, David" sort="Koeller, David" uniqKey="Koeller D" first="David" last="Koeller">David Koeller</name><affiliation wicri:level="4"><nlm:affiliation>Doernbecher Children's Hospital, Oregon Health & Science University, Portland, Oregon, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Doernbecher Children's Hospital, Oregon Health & Science University, Portland, Oregon</wicri:regionArea><placeName><region type="state">Oregon</region><settlement type="city">Portland</settlement></placeName><orgName type="university">Université des sciences et de la médecine de l'Oregon</orgName></affiliation></author><author><name sortKey="Nedd, Khan" sort="Nedd, Khan" uniqKey="Nedd K" first="Khan" last="Nedd">Khan Nedd</name><affiliation wicri:level="2"><nlm:affiliation>Infusion Associates, Grand Rapids, Missouri, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Infusion Associates, Grand Rapids, Missouri</wicri:regionArea><placeName><region type="state">Missouri (État)</region></placeName></affiliation></author><author><name sortKey="Vockley, Gerard" sort="Vockley, Gerard" uniqKey="Vockley G" first="Gerard" last="Vockley">Gerard Vockley</name><affiliation wicri:level="2"><nlm:affiliation>Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Hamazaki, Takashi" sort="Hamazaki, Takashi" uniqKey="Hamazaki T" first="Takashi" last="Hamazaki">Takashi Hamazaki</name><affiliation wicri:level="2"><nlm:affiliation>Infusion Associates, Grand Rapids, Missouri, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Infusion Associates, Grand Rapids, Missouri</wicri:regionArea><placeName><region type="state">Missouri (État)</region></placeName></affiliation></author><author><name sortKey="Lachmann, Robin" sort="Lachmann, Robin" uniqKey="Lachmann R" first="Robin" last="Lachmann">Robin Lachmann</name><affiliation wicri:level="3"><nlm:affiliation>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, 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="Ohashi, Toya" sort="Ohashi, Toya" uniqKey="Ohashi T" first="Toya" last="Ohashi">Toya Ohashi</name><affiliation wicri:level="3"><nlm:affiliation>Jikei University Hospital, Tokyo, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Jikei University Hospital, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName></affiliation></author><author><name sortKey="Olivotto, Iacopo" sort="Olivotto, Iacopo" uniqKey="Olivotto I" first="Iacopo" last="Olivotto">Iacopo Olivotto</name><affiliation wicri:level="1"><nlm:affiliation>Departmento Cuore e vasi, A.O.U. Careggi Firenze, Firenze, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Departmento Cuore e vasi, A.O.U. Careggi Firenze, Firenze</wicri:regionArea><wicri:noRegion>Firenze</wicri:noRegion></affiliation></author><author><name sortKey="Sakai, Norio" sort="Sakai, Norio" uniqKey="Sakai N" first="Norio" last="Sakai">Norio Sakai</name><affiliation wicri:level="1"><nlm:affiliation>Osaka City University Hospital, Osaka-shi, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Osaka City University Hospital, Osaka-shi</wicri:regionArea><wicri:noRegion>Osaka-shi</wicri:noRegion></affiliation></author><author><name sortKey="Deegan, Patrick" sort="Deegan, Patrick" uniqKey="Deegan P" first="Patrick" last="Deegan">Patrick Deegan</name><affiliation wicri:level="1"><nlm:affiliation>Lysosmal Disorders Unit, Department of Medicine, Addenbrooke's Hospital, Cambridge, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Lysosmal Disorders Unit, Department of Medicine, Addenbrooke's Hospital, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Dimmock, David" sort="Dimmock, David" uniqKey="Dimmock D" first="David" last="Dimmock">David Dimmock</name><affiliation wicri:level="2"><nlm:affiliation>Genetics Center MS716, Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Genetics Center MS716, Children's Hospital of Wisconsin, Milwaukee, Wisconsin</wicri:regionArea><placeName><region type="state">Wisconsin</region></placeName></affiliation></author><author><name sortKey="Eyskens, Francois" sort="Eyskens, Francois" uniqKey="Eyskens F" first="François" last="Eyskens">François Eyskens</name><affiliation wicri:level="1"><nlm:affiliation>Univeritair Ziekenhaus Anterpen, Edegem, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Univeritair Ziekenhaus Anterpen, Edegem</wicri:regionArea><wicri:noRegion>Edegem</wicri:noRegion></affiliation></author><author><name sortKey="Germain, Dominique P" sort="Germain, Dominique P" uniqKey="Germain D" first="Dominique P" last="Germain">Dominique P. Germain</name><affiliation wicri:level="3"><nlm:affiliation>Division of Medical Genetics, University of Versailles, Paris-Saclay University and Assistance Publique-Hôpitaux de Paris, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Division of Medical Genetics, University of Versailles, Paris-Saclay University and 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="Goker Alpan, Ozlem" sort="Goker Alpan, Ozlem" uniqKey="Goker Alpan O" first="Ozlem" last="Goker-Alpan">Ozlem Goker-Alpan</name><affiliation wicri:level="2"><nlm:affiliation>O & O Alpan LLC, Springfield, Virginia, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>O & O Alpan LLC, Springfield, Virginia</wicri:regionArea><placeName><region type="state">Virginie</region></placeName></affiliation></author><author><name sortKey="Hachulla, Eric" sort="Hachulla, Eric" uniqKey="Hachulla E" first="Eric" last="Hachulla">Eric Hachulla</name><affiliation wicri:level="3"><nlm:affiliation>Service de Médecine, Hôpital Claude Huriez-CHRU Lille, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Médecine, Hôpital Claude Huriez-CHRU Lille, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Jovanovic, Ana" sort="Jovanovic, Ana" uniqKey="Jovanovic A" first="Ana" last="Jovanovic">Ana Jovanovic</name><affiliation wicri:level="1"><nlm:affiliation>Department of Endocrinology and Metabolic Medicine, Salford Royal NHS Foundation Trust, Salford, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Endocrinology and Metabolic Medicine, Salford Royal NHS Foundation Trust, Salford</wicri:regionArea><wicri:noRegion>Salford</wicri:noRegion></affiliation></author><author><name sortKey="Lourenco, Charles M" sort="Lourenco, Charles M" uniqKey="Lourenco C" first="Charles M" last="Lourenco">Charles M. Lourenco</name><affiliation wicri:level="1"><nlm:affiliation>Hospital das Clínicas FMUSP-Ribeirão Preto, São Paulo, Ribeirão Preto, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Hospital das Clínicas FMUSP-Ribeirão Preto, São Paulo, Ribeirão Preto</wicri:regionArea><wicri:noRegion>Ribeirão Preto</wicri:noRegion></affiliation></author><author><name sortKey="Narita, Ichiei" sort="Narita, Ichiei" uniqKey="Narita I" first="Ichiei" last="Narita">Ichiei Narita</name><affiliation wicri:level="1"><nlm:affiliation>Niigata University Graduate School of Medicine and Dental Sciences, Niigata, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Niigata University Graduate School of Medicine and Dental Sciences, Niigata</wicri:regionArea><wicri:noRegion>Niigata</wicri:noRegion></affiliation></author><author><name sortKey="Thomas, Mark" sort="Thomas, Mark" uniqKey="Thomas M" first="Mark" last="Thomas">Mark Thomas</name><affiliation wicri:level="1"><nlm:affiliation>Royal Perth Hospital, Perth, New South Wales, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Royal Perth Hospital, Perth, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Wilcox, William R" sort="Wilcox, William R" uniqKey="Wilcox W" first="William R" last="Wilcox">William R. Wilcox</name><affiliation wicri:level="2"><nlm:affiliation>Department of Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genetics, Emory University School of Medicine, Atlanta, Georgia</wicri:regionArea><placeName><region type="state">Géorgie (États-Unis)</region></placeName></affiliation></author><author><name sortKey="Bichet, Daniel G" sort="Bichet, Daniel G" uniqKey="Bichet D" first="Daniel G" last="Bichet">Daniel G. Bichet</name><affiliation wicri:level="1"><nlm:affiliation>Clinical Research Division, Hôpital du Sacré-Coeur de Montreal, University of Montreal, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Clinical Research Division, Hôpital du Sacré-Coeur de Montreal, University of Montreal, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Schiffmann, Raphael" sort="Schiffmann, Raphael" uniqKey="Schiffmann R" first="Raphael" last="Schiffmann">Raphael Schiffmann</name><affiliation wicri:level="2"><nlm:affiliation>Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Ludington, Elizabeth" sort="Ludington, Elizabeth" uniqKey="Ludington E" first="Elizabeth" last="Ludington">Elizabeth Ludington</name><affiliation wicri:level="2"><nlm:affiliation>Agility Clinical Inc., Carlsbad, California, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Agility Clinical Inc., Carlsbad, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Viereck, Christopher" sort="Viereck, Christopher" uniqKey="Viereck C" first="Christopher" last="Viereck">Christopher Viereck</name><affiliation wicri:level="2"><nlm:affiliation>Amicus Therapeutics Inc., Cranbury, New Jersey, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Amicus Therapeutics Inc., Cranbury, New Jersey</wicri:regionArea><placeName><region type="state">New Jersey</region></placeName></affiliation></author><author><name sortKey="Kirk, John" sort="Kirk, John" uniqKey="Kirk J" first="John" last="Kirk">John Kirk</name><affiliation wicri:level="2"><nlm:affiliation>Amicus Therapeutics Inc., Cranbury, New Jersey, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Amicus Therapeutics Inc., Cranbury, New Jersey</wicri:regionArea><placeName><region type="state">New Jersey</region></placeName></affiliation></author><author><name sortKey="Yu, Julie" sort="Yu, Julie" uniqKey="Yu J" first="Julie" last="Yu">Julie Yu</name><affiliation wicri:level="2"><nlm:affiliation>Amicus Therapeutics Inc., Cranbury, New Jersey, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Amicus Therapeutics Inc., Cranbury, New Jersey</wicri:regionArea><placeName><region type="state">New Jersey</region></placeName></affiliation></author><author><name sortKey="Johnson, Franklin" sort="Johnson, Franklin" uniqKey="Johnson F" first="Franklin" last="Johnson">Franklin Johnson</name><affiliation wicri:level="2"><nlm:affiliation>Amicus Therapeutics Inc., Cranbury, New Jersey, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Amicus Therapeutics Inc., Cranbury, New Jersey</wicri:regionArea><placeName><region type="state">New Jersey</region></placeName></affiliation></author><author><name sortKey="Boudes, Pol" sort="Boudes, Pol" uniqKey="Boudes P" first="Pol" last="Boudes">Pol Boudes</name><affiliation wicri:level="2"><nlm:affiliation>CymaBay Therapeutics, Inc., Newark, California, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>CymaBay Therapeutics, Inc., Newark, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Benjamin, Elfrida R" sort="Benjamin, Elfrida R" uniqKey="Benjamin E" first="Elfrida R" last="Benjamin">Elfrida R. Benjamin</name><affiliation wicri:level="2"><nlm:affiliation>Amicus Therapeutics Inc., Cranbury, New Jersey, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Amicus Therapeutics Inc., Cranbury, New Jersey</wicri:regionArea><placeName><region type="state">New Jersey</region></placeName></affiliation></author><author><name sortKey="Lockhart, David J" sort="Lockhart, David J" uniqKey="Lockhart D" first="David J" last="Lockhart">David J. Lockhart</name><affiliation wicri:level="2"><nlm:affiliation>TranscripTx, Inc., Sunnyvale, California, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>TranscripTx, Inc., Sunnyvale, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Barlow, Carrolee" sort="Barlow, Carrolee" uniqKey="Barlow C" first="Carrolee" last="Barlow">Carrolee Barlow</name><affiliation wicri:level="2"><nlm:affiliation>Parkinson's Institute and Clinical Center, Sunnyvale, California, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Parkinson's Institute and Clinical Center, Sunnyvale, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Skuban, Nina" sort="Skuban, Nina" uniqKey="Skuban N" first="Nina" last="Skuban">Nina Skuban</name><affiliation wicri:level="2"><nlm:affiliation>Amicus Therapeutics Inc., Cranbury, New Jersey, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Amicus Therapeutics Inc., Cranbury, New Jersey</wicri:regionArea><placeName><region type="state">New Jersey</region></placeName></affiliation></author><author><name sortKey="Castelli, Jeffrey P" sort="Castelli, Jeffrey P" uniqKey="Castelli J" first="Jeffrey P" last="Castelli">Jeffrey P. Castelli</name><affiliation wicri:level="2"><nlm:affiliation>Amicus Therapeutics Inc., Cranbury, New Jersey, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Amicus Therapeutics Inc., Cranbury, New Jersey</wicri:regionArea><placeName><region type="state">New Jersey</region></placeName></affiliation></author><author><name sortKey="Barth, Jay" sort="Barth, Jay" uniqKey="Barth J" first="Jay" last="Barth">Jay Barth</name><affiliation wicri:level="2"><nlm:affiliation>Amicus Therapeutics Inc., Cranbury, New Jersey, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Amicus Therapeutics Inc., Cranbury, New Jersey</wicri:regionArea><placeName><region type="state">New Jersey</region></placeName></affiliation></author><author><name sortKey="Feldt Rasmussen, Ulla" sort="Feldt Rasmussen, Ulla" uniqKey="Feldt Rasmussen U" first="Ulla" last="Feldt-Rasmussen">Ulla Feldt-Rasmussen</name><affiliation wicri:level="3"><nlm:affiliation>Department of Medical Endocrinology, Rigshospital, Copenhagen University Hospital, Copenhagen, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Medical Endocrinology, Rigshospital, Copenhagen University Hospital, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author></analytic><series><title level="j">Journal of medical genetics</title><idno type="eISSN">1468-6244</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>1-Deoxynojirimycin (administration & dosage)</term><term>1-Deoxynojirimycin (adverse effects)</term><term>1-Deoxynojirimycin (analogs & derivatives)</term><term>Administration, Oral</term><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Enzyme Replacement Therapy (adverse effects)</term><term>Fabry Disease (drug therapy)</term><term>Fabry Disease (metabolism)</term><term>Fabry Disease (physiopathology)</term><term>Female</term><term>Humans</term><term>Lysosomes (genetics)</term><term>Lysosomes (pathology)</term><term>Male</term><term>Middle Aged</term><term>Molecular Chaperones (administration & dosage)</term><term>Molecular Chaperones (adverse effects)</term><term>Treatment Outcome</term><term>alpha-Galactosidase (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>1-Désoxynojirimycine (administration et posologie)</term><term>1-Désoxynojirimycine (analogues et dérivés)</term><term>1-Désoxynojirimycine (effets indésirables)</term><term>Administration par voie orale</term><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Chaperons moléculaires (administration et posologie)</term><term>Chaperons moléculaires (effets indésirables)</term><term>Femelle</term><term>Humains</term><term>Lysosomes (anatomopathologie)</term><term>Lysosomes (génétique)</term><term>Maladie de Fabry (métabolisme)</term><term>Maladie de Fabry (physiopathologie)</term><term>Maladie de Fabry (traitement médicamenteux)</term><term>Mâle</term><term>Résultat thérapeutique</term><term>Sujet âgé</term><term>Thérapie enzymatique substitutive (effets indésirables)</term><term>alpha-Galactosidase (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="administration & dosage" xml:lang="en"><term>1-Deoxynojirimycin</term><term>Molecular Chaperones</term></keywords><keywords scheme="MESH" type="chemical" qualifier="adverse effects" xml:lang="en"><term>1-Deoxynojirimycin</term><term>Molecular Chaperones</term></keywords><keywords scheme="MESH" type="chemical" qualifier="analogs & derivatives" xml:lang="en"><term>1-Deoxynojirimycin</term></keywords><keywords scheme="MESH" qualifier="administration et posologie" xml:lang="fr"><term>1-Désoxynojirimycine</term><term>Chaperons moléculaires</term></keywords><keywords scheme="MESH" qualifier="adverse effects" xml:lang="en"><term>Enzyme Replacement Therapy</term></keywords><keywords scheme="MESH" qualifier="analogues et dérivés" xml:lang="fr"><term>1-Désoxynojirimycine</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Lysosomes</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Fabry Disease</term></keywords><keywords scheme="MESH" qualifier="effets indésirables" xml:lang="fr"><term>1-Désoxynojirimycine</term><term>Chaperons moléculaires</term><term>Thérapie enzymatique substitutive</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lysosomes</term><term>alpha-Galactosidase</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Lysosomes</term><term>alpha-Galactosidase</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Fabry Disease</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Maladie de Fabry</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lysosomes</term></keywords><keywords scheme="MESH" qualifier="physiopathologie" xml:lang="fr"><term>Maladie de Fabry</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Fabry Disease</term></keywords><keywords scheme="MESH" qualifier="traitement médicamenteux" xml:lang="fr"><term>Maladie de Fabry</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Administration, Oral</term><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Treatment Outcome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Administration par voie orale</term><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Femelle</term><term>Humains</term><term>Mâle</term><term>Résultat thérapeutique</term><term>Sujet âgé</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Fabry disease is an X-linked lysosomal storage disorder caused by GLA mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of lysosomal substrates. Migalastat, an oral pharmacological chaperone being developed as an alternative to intravenous enzyme replacement therapy (ERT), stabilises specific mutant (amenable) forms of α-Gal to facilitate normal lysosomal trafficking.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">27834756</PMID><DateCreated><Year>2016</Year><Month>11</Month><Day>11</Day></DateCreated><DateCompleted><Year>2017</Year><Month>11</Month><Day>03</Day></DateCompleted><DateRevised><Year>2017</Year><Month>11</Month><Day>03</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1468-6244</ISSN><JournalIssue CitedMedium="Internet"><Volume>54</Volume><Issue>4</Issue><PubDate><Year>2017</Year><Month>Apr</Month></PubDate></JournalIssue><Title>Journal of medical genetics</Title><ISOAbbreviation>J. Med. Genet.</ISOAbbreviation></Journal><ArticleTitle>Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.</ArticleTitle><Pagination><MedlinePgn>288-296</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1136/jmedgenet-2016-104178</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Fabry disease is an X-linked lysosomal storage disorder caused by GLA mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of lysosomal substrates. Migalastat, an oral pharmacological chaperone being developed as an alternative to intravenous enzyme replacement therapy (ERT), stabilises specific mutant (amenable) forms of α-Gal to facilitate normal lysosomal trafficking.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">The main objective of the 18-month, randomised, active-controlled ATTRACT study was to assess the effects of migalastat on renal function in patients with Fabry disease previously treated with ERT. Effects on heart, disease substrate, patient-reported outcomes (PROs) and safety were also assessed.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Fifty-seven adults (56% female) receiving ERT (88% had multiorgan disease) were randomised (1.5:1), based on a preliminary cell-based assay of responsiveness to migalastat, to receive 18 months open-label migalastat or remain on ERT. Four patients had non-amenable mutant forms of α-Gal based on the validated cell-based assay conducted after treatment initiation and were excluded from primary efficacy analyses only. Migalastat and ERT had similar effects on renal function. Left ventricular mass index decreased significantly with migalastat treatment (-6.6 g/m(2) (-11.0 to -2.2)); there was no significant change with ERT. Predefined renal, cardiac or cerebrovascular events occurred in 29% and 44% of patients in the migalastat and ERT groups, respectively. Plasma globotriaosylsphingosine remained low and stable following the switch from ERT to migalastat. PROs were comparable between groups. Migalastat was generally safe and well tolerated.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Migalastat offers promise as a first-in-class oral monotherapy alternative treatment to intravenous ERT for patients with Fabry disease and amenable mutations.</AbstractText><AbstractText Label="TRIAL REGISTRATION NUMBER" NlmCategory="BACKGROUND">NCT00925301; Pre-results.</AbstractText><CopyrightInformation>Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Hughes</LastName><ForeName>Derralynn A</ForeName><Initials>DA</Initials><AffiliationInfo><Affiliation>Department of Haematology, Royal Free London NHS Foundation Trust and University College London, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nicholls</LastName><ForeName>Kathleen</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Department of Nephrology, Royal Melbourne Hospital, Parkville, Victoria, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Shankar</LastName><ForeName>Suma P</ForeName><Initials>SP</Initials><AffiliationInfo><Affiliation>Section of Vitreoretinal Surgery & Diseases, Emory University, Atlanta, Georgia, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sunder-Plassmann</LastName><ForeName>Gere</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Division of Nephrology and Dialysis, Department of Medicine III, Medical University of Vienna, Vienna, Austria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Koeller</LastName><ForeName>David</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Doernbecher Children's Hospital, Oregon Health & Science University, Portland, Oregon, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nedd</LastName><ForeName>Khan</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Infusion Associates, Grand Rapids, Missouri, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vockley</LastName><ForeName>Gerard</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hamazaki</LastName><ForeName>Takashi</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Infusion Associates, Grand Rapids, Missouri, USA.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Pediatrics, Osaka City University Hospital, Osaka-shi, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lachmann</LastName><ForeName>Robin</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ohashi</LastName><ForeName>Toya</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Jikei University Hospital, Tokyo, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Olivotto</LastName><ForeName>Iacopo</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Departmento Cuore e vasi, A.O.U. Careggi Firenze, Firenze, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sakai</LastName><ForeName>Norio</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Osaka City University Hospital, Osaka-shi, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Deegan</LastName><ForeName>Patrick</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Lysosmal Disorders Unit, Department of Medicine, Addenbrooke's Hospital, Cambridge, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dimmock</LastName><ForeName>David</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Genetics Center MS716, Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Eyskens</LastName><ForeName>François</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Univeritair Ziekenhaus Anterpen, Edegem, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Germain</LastName><ForeName>Dominique P</ForeName><Initials>DP</Initials><AffiliationInfo><Affiliation>Division of Medical Genetics, University of Versailles, Paris-Saclay University and Assistance Publique-Hôpitaux de Paris, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Goker-Alpan</LastName><ForeName>Ozlem</ForeName><Initials>O</Initials><AffiliationInfo><Affiliation>O & O Alpan LLC, Springfield, Virginia, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hachulla</LastName><ForeName>Eric</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Service de Médecine, Hôpital Claude Huriez-CHRU Lille, Lille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jovanovic</LastName><ForeName>Ana</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Endocrinology and Metabolic Medicine, Salford Royal NHS Foundation Trust, Salford, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lourenco</LastName><ForeName>Charles M</ForeName><Initials>CM</Initials><AffiliationInfo><Affiliation>Hospital das Clínicas FMUSP-Ribeirão Preto, São Paulo, Ribeirão Preto, Brazil.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Narita</LastName><ForeName>Ichiei</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Niigata University Graduate School of Medicine and Dental Sciences, Niigata, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Thomas</LastName><ForeName>Mark</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Royal Perth Hospital, Perth, New South Wales, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wilcox</LastName><ForeName>William R</ForeName><Initials>WR</Initials><AffiliationInfo><Affiliation>Department of Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bichet</LastName><ForeName>Daniel G</ForeName><Initials>DG</Initials><AffiliationInfo><Affiliation>Clinical Research Division, Hôpital du Sacré-Coeur de Montreal, University of Montreal, Montreal, Quebec, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schiffmann</LastName><ForeName>Raphael</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ludington</LastName><ForeName>Elizabeth</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Agility Clinical Inc., Carlsbad, California, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Viereck</LastName><ForeName>Christopher</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Amicus Therapeutics Inc., Cranbury, New Jersey, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kirk</LastName><ForeName>John</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Amicus Therapeutics Inc., Cranbury, New Jersey, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Yu</LastName><ForeName>Julie</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Amicus Therapeutics Inc., Cranbury, New Jersey, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Johnson</LastName><ForeName>Franklin</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Amicus Therapeutics Inc., Cranbury, New Jersey, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Boudes</LastName><ForeName>Pol</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>CymaBay Therapeutics, Inc., Newark, California, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Benjamin</LastName><ForeName>Elfrida R</ForeName><Initials>ER</Initials><AffiliationInfo><Affiliation>Amicus Therapeutics Inc., Cranbury, New Jersey, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lockhart</LastName><ForeName>David J</ForeName><Initials>DJ</Initials><AffiliationInfo><Affiliation>TranscripTx, Inc., Sunnyvale, California, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Barlow</LastName><ForeName>Carrolee</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Parkinson's Institute and Clinical Center, Sunnyvale, California, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Skuban</LastName><ForeName>Nina</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Amicus Therapeutics Inc., Cranbury, New Jersey, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Castelli</LastName><ForeName>Jeffrey P</ForeName><Initials>JP</Initials><AffiliationInfo><Affiliation>Amicus Therapeutics Inc., Cranbury, New Jersey, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Barth</LastName><ForeName>Jay</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Amicus Therapeutics Inc., Cranbury, New Jersey, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Feldt-Rasmussen</LastName><ForeName>Ulla</ForeName><Initials>U</Initials><AffiliationInfo><Affiliation>Department of Medical Endocrinology, Rigshospital, Copenhagen University Hospital, Copenhagen, Denmark.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D017428">Clinical Trial, Phase III</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016449">Randomized Controlled Trial</PublicationType></PublicationTypeList><ArticleDate 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Version="1">24645664</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D017485" MajorTopicYN="N">1-Deoxynojirimycin</DescriptorName><QualifierName UI="Q000008" MajorTopicYN="N">administration & dosage</QualifierName><QualifierName UI="Q000009" MajorTopicYN="N">adverse effects</QualifierName><QualifierName UI="Q000031" MajorTopicYN="Y">analogs & derivatives</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D000284" MajorTopicYN="N">Administration, Oral</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D056947" MajorTopicYN="N">Enzyme Replacement Therapy</DescriptorName><QualifierName UI="Q000009" MajorTopicYN="N">adverse effects</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D000795" MajorTopicYN="N">Fabry Disease</DescriptorName><QualifierName UI="Q000188" MajorTopicYN="Y">drug therapy</QualifierName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName><QualifierName UI="Q000503" MajorTopicYN="N">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008247" MajorTopicYN="N">Lysosomes</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018832" MajorTopicYN="N">Molecular Chaperones</DescriptorName><QualifierName UI="Q000008" MajorTopicYN="Y">administration & dosage</QualifierName><QualifierName UI="Q000009" MajorTopicYN="N">adverse effects</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D016896" MajorTopicYN="N">Treatment Outcome</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000519" MajorTopicYN="N">alpha-Galactosidase</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Fabry disease</Keyword><Keyword MajorTopicYN="N">Pharmacological chaperone</Keyword><Keyword MajorTopicYN="N">enzyme replacement therapy</Keyword><Keyword MajorTopicYN="N">lyso-Gb3</Keyword><Keyword MajorTopicYN="N">lysosomal storage disorder</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>07</Month><Day>19</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2016</Year><Month>10</Month><Day>07</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>10</Month><Day>12</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2016</Year><Month>11</Month><Day>12</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>11</Month><Day>4</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2016</Year><Month>11</Month><Day>12</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">27834756</ArticleId><ArticleId IdType="pii">jmedgenet-2016-104178</ArticleId><ArticleId IdType="doi">10.1136/jmedgenet-2016-104178</ArticleId><ArticleId IdType="pmc">PMC5502308</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Australie</li><li>Autriche</li><li>Belgique</li><li>Brésil</li><li>Canada</li><li>Danemark</li><li>France</li><li>Italie</li><li>Japon</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Californie</li><li>Grand Londres</li><li>Géorgie (États-Unis)</li><li>Hauts-de-France</li><li>Hovedstaden</li><li>Missouri (État)</li><li>New Jersey</li><li>Nord-Pas-de-Calais</li><li>Oregon</li><li>Pennsylvanie</li><li>Région de Kantō</li><li>Texas</li><li>Vienne (Autriche)</li><li>Virginie</li><li>Wisconsin</li><li>Île-de-France</li></region><settlement><li>Copenhague</li><li>Lille</li><li>Londres</li><li>Paris</li><li>Portland</li><li>Tokyo</li><li>Vienne (Autriche)</li></settlement><orgName><li>University College de Londres</li><li>Université des sciences et de la médecine de l'Oregon</li></orgName></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Hughes, Derralynn A" sort="Hughes, Derralynn A" uniqKey="Hughes D" first="Derralynn A" last="Hughes">Derralynn A. Hughes</name></region><name sortKey="Deegan, Patrick" sort="Deegan, Patrick" uniqKey="Deegan P" first="Patrick" last="Deegan">Patrick Deegan</name><name sortKey="Jovanovic, Ana" sort="Jovanovic, Ana" uniqKey="Jovanovic A" first="Ana" last="Jovanovic">Ana Jovanovic</name><name sortKey="Lachmann, Robin" sort="Lachmann, Robin" uniqKey="Lachmann R" first="Robin" last="Lachmann">Robin Lachmann</name></country><country name="Australie"><noRegion><name sortKey="Nicholls, Kathleen" sort="Nicholls, Kathleen" uniqKey="Nicholls K" first="Kathleen" last="Nicholls">Kathleen Nicholls</name></noRegion><name sortKey="Thomas, Mark" sort="Thomas, Mark" uniqKey="Thomas M" first="Mark" last="Thomas">Mark Thomas</name></country><country name="États-Unis"><region name="Géorgie (États-Unis)"><name sortKey="Shankar, Suma P" sort="Shankar, Suma P" uniqKey="Shankar S" first="Suma P" last="Shankar">Suma P. Shankar</name></region><name sortKey="Barlow, Carrolee" sort="Barlow, Carrolee" uniqKey="Barlow C" first="Carrolee" last="Barlow">Carrolee Barlow</name><name sortKey="Barth, Jay" sort="Barth, Jay" uniqKey="Barth J" first="Jay" last="Barth">Jay Barth</name><name sortKey="Benjamin, Elfrida R" sort="Benjamin, Elfrida R" uniqKey="Benjamin E" first="Elfrida R" last="Benjamin">Elfrida R. Benjamin</name><name sortKey="Boudes, Pol" sort="Boudes, Pol" uniqKey="Boudes P" first="Pol" last="Boudes">Pol Boudes</name><name sortKey="Castelli, Jeffrey P" sort="Castelli, Jeffrey P" uniqKey="Castelli J" first="Jeffrey P" last="Castelli">Jeffrey P. Castelli</name><name sortKey="Dimmock, David" sort="Dimmock, David" uniqKey="Dimmock D" first="David" last="Dimmock">David Dimmock</name><name sortKey="Goker Alpan, Ozlem" sort="Goker Alpan, Ozlem" uniqKey="Goker Alpan O" first="Ozlem" last="Goker-Alpan">Ozlem Goker-Alpan</name><name sortKey="Hamazaki, Takashi" sort="Hamazaki, Takashi" uniqKey="Hamazaki T" first="Takashi" last="Hamazaki">Takashi Hamazaki</name><name sortKey="Johnson, Franklin" sort="Johnson, Franklin" uniqKey="Johnson F" first="Franklin" last="Johnson">Franklin Johnson</name><name sortKey="Kirk, John" sort="Kirk, John" uniqKey="Kirk J" first="John" last="Kirk">John Kirk</name><name sortKey="Koeller, David" sort="Koeller, David" uniqKey="Koeller D" first="David" last="Koeller">David Koeller</name><name sortKey="Lockhart, David J" sort="Lockhart, David J" uniqKey="Lockhart D" first="David J" last="Lockhart">David J. 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Wilcox</name><name sortKey="Yu, Julie" sort="Yu, Julie" uniqKey="Yu J" first="Julie" last="Yu">Julie Yu</name></country><country name="Autriche"><region name="Vienne (Autriche)"><name sortKey="Sunder Plassmann, Gere" sort="Sunder Plassmann, Gere" uniqKey="Sunder Plassmann G" first="Gere" last="Sunder-Plassmann">Gere Sunder-Plassmann</name></region></country><country name="Japon"><region name="Région de Kantō"><name sortKey="Ohashi, Toya" sort="Ohashi, Toya" uniqKey="Ohashi T" first="Toya" last="Ohashi">Toya Ohashi</name></region><name sortKey="Narita, Ichiei" sort="Narita, Ichiei" uniqKey="Narita I" first="Ichiei" last="Narita">Ichiei Narita</name><name sortKey="Sakai, Norio" sort="Sakai, Norio" uniqKey="Sakai N" first="Norio" last="Sakai">Norio Sakai</name></country><country name="Italie"><noRegion><name sortKey="Olivotto, Iacopo" sort="Olivotto, Iacopo" uniqKey="Olivotto I" first="Iacopo" last="Olivotto">Iacopo Olivotto</name></noRegion></country><country name="Belgique"><noRegion><name sortKey="Eyskens, Francois" sort="Eyskens, Francois" uniqKey="Eyskens F" first="François" last="Eyskens">François Eyskens</name></noRegion></country><country name="France"><region name="Île-de-France"><name sortKey="Germain, Dominique P" sort="Germain, Dominique P" uniqKey="Germain D" first="Dominique P" last="Germain">Dominique P. Germain</name></region><name sortKey="Hachulla, Eric" sort="Hachulla, Eric" uniqKey="Hachulla E" first="Eric" last="Hachulla">Eric Hachulla</name></country><country name="Brésil"><noRegion><name sortKey="Lourenco, Charles M" sort="Lourenco, Charles M" uniqKey="Lourenco C" first="Charles M" last="Lourenco">Charles M. Lourenco</name></noRegion></country><country name="Canada"><noRegion><name sortKey="Bichet, Daniel G" sort="Bichet, Daniel G" uniqKey="Bichet D" first="Daniel G" last="Bichet">Daniel G. Bichet</name></noRegion></country><country name="Danemark"><region name="Hovedstaden"><name sortKey="Feldt Rasmussen, Ulla" sort="Feldt Rasmussen, Ulla" uniqKey="Feldt Rasmussen U" first="Ulla" last="Feldt-Rasmussen">Ulla Feldt-Rasmussen</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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