Survival End Points for Huntington Disease Trials Prior to a Motor Diagnosis.
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Auteurs : Jeffrey D. Long [États-Unis] ; James A. Mills [États-Unis] ; Blair R. Leavitt [Canada] ; Alexandra Durr [France] ; Raymund A. Roos [Pays-Bas] ; Julie C. Stout [Australie] ; Ralf Reilmann [Allemagne] ; Bernhard Landwehrmeyer [Allemagne] ; Sarah Gregory [Royaume-Uni] ; Rachael I. Scahill [Royaume-Uni] ; Douglas R. Langbehn [États-Unis] ; Sarah J. Tabrizi [Royaume-Uni]Source :
- JAMA neurology [ 2168-6157 ] ; 2017.
Abstract
Predictive genetic testing in Huntington disease (HD) enables therapeutic trials in HTT gene expansion mutation carriers prior to a motor diagnosis. Progression-free survival (PFS) is the composite of a motor diagnosis or a progression event, whichever comes first.
DOI: 10.1001/jamaneurol.2017.2107
PubMed: 28975278
Affiliations:
- Allemagne, Australie, Canada, France, Pays-Bas, Royaume-Uni, États-Unis
- Angleterre, Bade-Wurtemberg, District de Münster, District de Tübingen, Hollande-Méridionale, Iowa, Rhénanie-du-Nord-Westphalie, Île-de-France
- Iowa City, Leyde, Münster, Paris, Ulm
- Université d'Ulm, Université de l'Iowa
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Scahill</name><affiliation wicri:level="2"><nlm:affiliation>Institute of Neurology, University College London, London, England.</nlm:affiliation><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>Institute of Neurology, University College London, London</wicri:cityArea></affiliation></author><author><name sortKey="Langbehn, Douglas R" sort="Langbehn, Douglas R" uniqKey="Langbehn D" first="Douglas R" last="Langbehn">Douglas R. Langbehn</name><affiliation wicri:level="4"><nlm:affiliation>Department of Psychiatry, Carver College of Medicine, University of Iowa, Iowa City.</nlm:affiliation><orgName type="university">Université de l'Iowa</orgName><country>États-Unis</country><placeName><settlement type="city">Iowa City</settlement><region type="state">Iowa</region></placeName></affiliation></author><author><name sortKey="Tabrizi, Sarah J" sort="Tabrizi, Sarah J" uniqKey="Tabrizi S" first="Sarah J" last="Tabrizi">Sarah J. 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Long</name><affiliation wicri:level="4"><nlm:affiliation>Department of Psychiatry, Carver College of Medicine, University of Iowa, Iowa City.</nlm:affiliation><orgName type="university">Université de l'Iowa</orgName><country>États-Unis</country><placeName><settlement type="city">Iowa City</settlement><region type="state">Iowa</region></placeName></affiliation></author><author><name sortKey="Mills, James A" sort="Mills, James A" uniqKey="Mills J" first="James A" last="Mills">James A. Mills</name><affiliation wicri:level="4"><nlm:affiliation>Department of Psychiatry, Carver College of Medicine, University of Iowa, Iowa City.</nlm:affiliation><orgName type="university">Université de l'Iowa</orgName><country>États-Unis</country><placeName><settlement type="city">Iowa City</settlement><region type="state">Iowa</region></placeName></affiliation></author><author><name sortKey="Leavitt, Blair R" sort="Leavitt, Blair R" uniqKey="Leavitt B" first="Blair R" last="Leavitt">Blair R. Leavitt</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia</wicri:regionArea><wicri:noRegion>British Columbia</wicri:noRegion></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name><affiliation wicri:level="3"><nlm:affiliation>Department of Genetics and Cytogenetics, and INSERM UMR S679, Institut du Cerveau et de la Moelle Epinière, Hôpital de la Salpêtrière, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Genetics and Cytogenetics, and INSERM UMR S679, Institut du Cerveau et de la Moelle Epinière, Hôpital de la Salpêtrière, 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="Roos, Raymund A" sort="Roos, Raymund A" uniqKey="Roos R" first="Raymund A" last="Roos">Raymund A. Roos</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Leiden University Medical Centre, Leiden, Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Stout, Julie C" sort="Stout, Julie C" uniqKey="Stout J" first="Julie C" last="Stout">Julie C. Stout</name><affiliation wicri:level="1"><nlm:affiliation>School of Psychology and Psychiatry, Monash University, Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School of Psychology and Psychiatry, Monash University, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Reilmann, Ralf" sort="Reilmann, Ralf" uniqKey="Reilmann R" first="Ralf" last="Reilmann">Ralf Reilmann</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, University of Münster, Münster, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Münster, Münster</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Münster</region><settlement type="city">Münster</settlement></placeName></affiliation></author><author><name sortKey="Landwehrmeyer, Bernhard" sort="Landwehrmeyer, Bernhard" uniqKey="Landwehrmeyer B" first="Bernhard" last="Landwehrmeyer">Bernhard Landwehrmeyer</name><affiliation wicri:level="4"><nlm:affiliation>Cure Huntington's Disease Initiative Foundation, Department of Neurology, University of Ulm, Ulm, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Cure Huntington's Disease Initiative Foundation, Department of Neurology, University of Ulm, Ulm</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Ulm</settlement><settlement type="city">Ulm</settlement></placeName><orgName type="university">Université d'Ulm</orgName></affiliation></author><author><name sortKey="Gregory, Sarah" sort="Gregory, Sarah" uniqKey="Gregory S" first="Sarah" last="Gregory">Sarah Gregory</name><affiliation wicri:level="2"><nlm:affiliation>Huntington's Disease Research Centre, Institute of Neurology, University College London, London, England.</nlm:affiliation><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>Huntington's Disease Research Centre, Institute of Neurology, University College London, London</wicri:cityArea></affiliation></author><author><name sortKey="Scahill, Rachael I" sort="Scahill, Rachael I" uniqKey="Scahill R" first="Rachael I" last="Scahill">Rachael I. Scahill</name><affiliation wicri:level="2"><nlm:affiliation>Institute of Neurology, University College London, London, England.</nlm:affiliation><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>Institute of Neurology, University College London, London</wicri:cityArea></affiliation></author><author><name sortKey="Langbehn, Douglas R" sort="Langbehn, Douglas R" uniqKey="Langbehn D" first="Douglas R" last="Langbehn">Douglas R. Langbehn</name><affiliation wicri:level="4"><nlm:affiliation>Department of Psychiatry, Carver College of Medicine, University of Iowa, Iowa City.</nlm:affiliation><orgName type="university">Université de l'Iowa</orgName><country>États-Unis</country><placeName><settlement type="city">Iowa City</settlement><region type="state">Iowa</region></placeName></affiliation></author><author><name sortKey="Tabrizi, Sarah J" sort="Tabrizi, Sarah J" uniqKey="Tabrizi S" first="Sarah J" last="Tabrizi">Sarah J. Tabrizi</name><affiliation wicri:level="2"><nlm:affiliation>Huntington's Disease Centre, Department of Neurodegenerative Disease, Institute of Neurology, University College London, Queen Square, London, England.</nlm:affiliation><country>Royaume-Uni</country><placeName><region type="country">Angleterre</region></placeName><wicri:cityArea>Huntington's Disease Centre, Department of Neurodegenerative Disease, Institute of Neurology, University College London, Queen Square, London</wicri:cityArea></affiliation></author></analytic><series><title level="j">JAMA neurology</title><idno type="eISSN">2168-6157</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">Predictive genetic testing in Huntington disease (HD) enables therapeutic trials in HTT gene expansion mutation carriers prior to a motor diagnosis. Progression-free survival (PFS) is the composite of a motor diagnosis or a progression event, whichever comes first.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Canada</li><li>France</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Bade-Wurtemberg</li><li>District de Münster</li><li>District de Tübingen</li><li>Hollande-Méridionale</li><li>Iowa</li><li>Rhénanie-du-Nord-Westphalie</li><li>Île-de-France</li></region><settlement><li>Iowa City</li><li>Leyde</li><li>Münster</li><li>Paris</li><li>Ulm</li></settlement><orgName><li>Université d'Ulm</li><li>Université de l'Iowa</li></orgName></list><tree><country name="États-Unis"><region name="Iowa"><name sortKey="Long, Jeffrey D" sort="Long, Jeffrey D" uniqKey="Long J" first="Jeffrey D" last="Long">Jeffrey D. Long</name></region><name sortKey="Langbehn, Douglas R" sort="Langbehn, Douglas R" uniqKey="Langbehn D" first="Douglas R" last="Langbehn">Douglas R. Langbehn</name><name sortKey="Mills, James A" sort="Mills, James A" uniqKey="Mills J" first="James A" last="Mills">James A. Mills</name></country><country name="Canada"><noRegion><name sortKey="Leavitt, Blair R" sort="Leavitt, Blair R" uniqKey="Leavitt B" first="Blair R" last="Leavitt">Blair R. Leavitt</name></noRegion></country><country name="France"><region name="Île-de-France"><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name></region></country><country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Roos, Raymund A" sort="Roos, Raymund A" uniqKey="Roos R" first="Raymund A" last="Roos">Raymund A. Roos</name></region></country><country name="Australie"><noRegion><name sortKey="Stout, Julie C" sort="Stout, Julie C" uniqKey="Stout J" first="Julie C" last="Stout">Julie C. Stout</name></noRegion></country><country name="Allemagne"><region name="Rhénanie-du-Nord-Westphalie"><name sortKey="Reilmann, Ralf" sort="Reilmann, Ralf" uniqKey="Reilmann R" first="Ralf" last="Reilmann">Ralf Reilmann</name></region><name sortKey="Landwehrmeyer, Bernhard" sort="Landwehrmeyer, Bernhard" uniqKey="Landwehrmeyer B" first="Bernhard" last="Landwehrmeyer">Bernhard Landwehrmeyer</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Gregory, Sarah" sort="Gregory, Sarah" uniqKey="Gregory S" first="Sarah" last="Gregory">Sarah Gregory</name></region><name sortKey="Scahill, Rachael I" sort="Scahill, Rachael I" uniqKey="Scahill R" first="Rachael I" last="Scahill">Rachael I. Scahill</name><name sortKey="Tabrizi, Sarah J" sort="Tabrizi, Sarah J" uniqKey="Tabrizi S" first="Sarah J" last="Tabrizi">Sarah J. Tabrizi</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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