Measuring the rate of progression in Friedreich ataxia: Implications for clinical trial design
Identifieur interne : 002968 ( Ncbi/Curation ); précédent : 002967; suivant : 002969Measuring the rate of progression in Friedreich ataxia: Implications for clinical trial design
Auteurs : Lisa S. Friedman [États-Unis] ; Jennifer M. Farmer [États-Unis] ; Susan Perlman [États-Unis] ; George Wilmot [États-Unis] ; Christopher Gomez [États-Unis] ; Khalaf O. Bushara [États-Unis] ; Katherine D. Mathews [États-Unis] ; S. H. Subramony [États-Unis] ; Tetsuo Ashizawa [États-Unis] ; Laura J. Balcer [États-Unis] ; Robert B. Wilson [États-Unis] ; David R. Lynch [États-Unis]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2010.
English descriptors
- KwdEn :
- Activities of Daily Living, Adult, Aged, Clinical Trials as Topic, DNA, Mitochondrial (genetics), Disease Progression, Double-Blind Method, Female, Friedreich Ataxia (diagnosis), Friedreich Ataxia (genetics), Friedreich Ataxia (physiopathology), Humans, Iron-Binding Proteins (genetics), Male, Middle Aged, Neurologic Examination, Point Mutation (genetics), Severity of Illness Index, Speech Disorders (diagnosis), Trinucleotide Repeats (genetics), Walking, Young Adult.
- MESH :
- chemical , genetics : DNA, Mitochondrial, Iron-Binding Proteins.
- diagnosis : Friedreich Ataxia, Speech Disorders.
- genetics : Friedreich Ataxia, Point Mutation, Trinucleotide Repeats.
- physiopathology : Friedreich Ataxia.
- Activities of Daily Living, Adult, Aged, Clinical Trials as Topic, Disease Progression, Double-Blind Method, Female, Humans, Male, Middle Aged, Neurologic Examination, Severity of Illness Index, Walking, Young Adult.
Abstract
Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized by ataxia of all four limbs, dysarthria and arreflexia. A variety of measures are currently used to quantify disease progression, including the Friedreich Ataxia Rating Scale, examiner-rated functional disability scales, self-reported activities of daily living and performance measures such as the timed 25-foot walk, 9-hole pegboard test, PATA speech test, and low-contrast letter acuity vision charts. The present study examines the rate of disease progression over one and two years in a cohort of 236 Friedreich ataxia patients using these scales and performance measure composites. The Friedreich Ataxia Rating Scale and performance-measure composites captured disease progression, with a greater sensitivity to change over two years than over one year. The measures differed in their sensitivity to change and in possible bias. These results help to establish norms for progression in FRDA that can be useful in measuring the long-term success of therapeutic agents and defining sample-size calculations for double-blind clinical trials.
Url:
DOI: 10.1002/mds.22912
PubMed: 20063431
PubMed Central: 2954653
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Friedman</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Neurology, University of Pennsylvania School of Medicine, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Pennsylvania School of Medicine</wicri:regionArea><wicri:noRegion>University of Pennsylvania School of Medicine</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Department of Pediatrics, University of Pennsylvania School of Medicine, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Pennsylvania School of Medicine</wicri:regionArea><wicri:noRegion>University of Pennsylvania School of Medicine</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A3">Children’s Hospital of Philadelphia, Philadelphia, PA, 19104, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Children’s Hospital of Philadelphia, Philadelphia, PA, 19104</wicri:regionArea><wicri:noRegion>19104</wicri:noRegion></affiliation></author><author><name sortKey="Farmer, Jennifer M" sort="Farmer, Jennifer M" uniqKey="Farmer J" first="Jennifer M" last="Farmer">Jennifer M. 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H" last="Subramony">S. H. 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Friedman</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Neurology, University of Pennsylvania School of Medicine, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Pennsylvania School of Medicine</wicri:regionArea><wicri:noRegion>University of Pennsylvania School of Medicine</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Department of Pediatrics, University of Pennsylvania School of Medicine, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Pennsylvania School of Medicine</wicri:regionArea><wicri:noRegion>University of Pennsylvania School of Medicine</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A3">Children’s Hospital of Philadelphia, Philadelphia, PA, 19104, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Children’s Hospital of Philadelphia, Philadelphia, PA, 19104</wicri:regionArea><wicri:noRegion>19104</wicri:noRegion></affiliation></author><author><name sortKey="Farmer, Jennifer M" sort="Farmer, Jennifer M" uniqKey="Farmer J" first="Jennifer M" last="Farmer">Jennifer M. Farmer</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Neurology, University of Pennsylvania School of Medicine, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Pennsylvania School of Medicine</wicri:regionArea><wicri:noRegion>University of Pennsylvania School of Medicine</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Department of Pediatrics, University of Pennsylvania School of Medicine, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Pennsylvania School of Medicine</wicri:regionArea><wicri:noRegion>University of Pennsylvania School of Medicine</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A3">Children’s Hospital of Philadelphia, Philadelphia, PA, 19104, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Children’s Hospital of Philadelphia, Philadelphia, PA, 19104</wicri:regionArea><wicri:noRegion>19104</wicri:noRegion></affiliation></author><author><name sortKey="Perlman, Susan" sort="Perlman, Susan" uniqKey="Perlman S" first="Susan" last="Perlman">Susan Perlman</name><affiliation wicri:level="2"><nlm:aff id="A4">University of California Los Angeles, Los Angeles, CA, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of California Los Angeles, Los Angeles, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Wilmot, George" sort="Wilmot, George" uniqKey="Wilmot G" first="George" last="Wilmot">George Wilmot</name><affiliation wicri:level="2"><nlm:aff id="A5">Emory University, Atlanta, GA, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Emory University, Atlanta, GA</wicri:regionArea><placeName><region type="state">Géorgie (États-Unis)</region></placeName></affiliation></author><author><name sortKey="Gomez, Christopher" sort="Gomez, Christopher" uniqKey="Gomez C" first="Christopher" last="Gomez">Christopher Gomez</name><affiliation wicri:level="2"><nlm:aff id="A6">University of Minnesota, Minneapolis, MN, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of Minnesota, Minneapolis, MN</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="A7">University of Chicago, Chicago, IL, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of Chicago, Chicago, IL</wicri:regionArea><placeName><region type="state">Illinois</region></placeName></affiliation></author><author><name sortKey="Bushara, Khalaf O" sort="Bushara, Khalaf O" uniqKey="Bushara K" first="Khalaf O" last="Bushara">Khalaf O. Bushara</name><affiliation wicri:level="2"><nlm:aff id="A6">University of Minnesota, Minneapolis, MN, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of Minnesota, Minneapolis, MN</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Mathews, Katherine D" sort="Mathews, Katherine D" uniqKey="Mathews K" first="Katherine D" last="Mathews">Katherine D. Mathews</name><affiliation wicri:level="4"><nlm:aff id="A8">University of Iowa, Iowa City, IA, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of Iowa, Iowa City, IA</wicri:regionArea><placeName><region type="state">Iowa</region><settlement type="city">Iowa City</settlement></placeName><orgName type="university">Université de l'Iowa</orgName></affiliation></author><author><name sortKey="Subramony, S H" sort="Subramony, S H" uniqKey="Subramony S" first="S. H" last="Subramony">S. H. Subramony</name><affiliation wicri:level="2"><nlm:aff id="A9">University of Texas Medical Branch, Galveston, TX, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of Texas Medical Branch, Galveston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="A10">University of Mississippi, Jackson, MS, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of Mississippi, Jackson, MS</wicri:regionArea><placeName><region type="state">État du Mississippi</region></placeName></affiliation></author><author><name sortKey="Ashizawa, Tetsuo" sort="Ashizawa, Tetsuo" uniqKey="Ashizawa T" first="Tetsuo" last="Ashizawa">Tetsuo Ashizawa</name><affiliation wicri:level="2"><nlm:aff id="A9">University of Texas Medical Branch, Galveston, TX, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of Texas Medical Branch, Galveston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="A11">University of Florida, Gainesville, FL, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of Florida, Gainesville, FL</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Balcer, Laura J" sort="Balcer, Laura J" uniqKey="Balcer L" first="Laura J" last="Balcer">Laura J. Balcer</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Neurology, University of Pennsylvania School of Medicine, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Pennsylvania School of Medicine</wicri:regionArea><wicri:noRegion>University of Pennsylvania School of Medicine</wicri:noRegion></affiliation></author><author><name sortKey="Wilson, Robert B" sort="Wilson, Robert B" uniqKey="Wilson R" first="Robert B" last="Wilson">Robert B. Wilson</name><affiliation wicri:level="1"><nlm:aff id="A12">Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine</wicri:regionArea><wicri:noRegion>University of Pennsylvania School of Medicine</wicri:noRegion></affiliation></author><author><name sortKey="Lynch, David R" sort="Lynch, David R" uniqKey="Lynch D" first="David R" last="Lynch">David R. Lynch</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Neurology, University of Pennsylvania School of Medicine, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Pennsylvania School of Medicine</wicri:regionArea><wicri:noRegion>University of Pennsylvania School of Medicine</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Department of Pediatrics, University of Pennsylvania School of Medicine, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Pennsylvania School of Medicine</wicri:regionArea><wicri:noRegion>University of Pennsylvania School of Medicine</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A3">Children’s Hospital of Philadelphia, Philadelphia, PA, 19104, United States</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Children’s Hospital of Philadelphia, Philadelphia, PA, 19104</wicri:regionArea><wicri:noRegion>19104</wicri:noRegion></affiliation></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Activities of Daily Living</term><term>Adult</term><term>Aged</term><term>Clinical Trials as Topic</term><term>DNA, Mitochondrial (genetics)</term><term>Disease Progression</term><term>Double-Blind Method</term><term>Female</term><term>Friedreich Ataxia (diagnosis)</term><term>Friedreich Ataxia (genetics)</term><term>Friedreich Ataxia (physiopathology)</term><term>Humans</term><term>Iron-Binding Proteins (genetics)</term><term>Male</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Point Mutation (genetics)</term><term>Severity of Illness Index</term><term>Speech Disorders (diagnosis)</term><term>Trinucleotide Repeats (genetics)</term><term>Walking</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA, Mitochondrial</term><term>Iron-Binding Proteins</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Friedreich Ataxia</term><term>Speech Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Friedreich Ataxia</term><term>Point Mutation</term><term>Trinucleotide Repeats</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Friedreich Ataxia</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Activities of Daily Living</term><term>Adult</term><term>Aged</term><term>Clinical Trials as Topic</term><term>Disease Progression</term><term>Double-Blind Method</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Severity of Illness Index</term><term>Walking</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized by ataxia of all four limbs, dysarthria and arreflexia. A variety of measures are currently used to quantify disease progression, including the Friedreich Ataxia Rating Scale, examiner-rated functional disability scales, self-reported activities of daily living and performance measures such as the timed 25-foot walk, 9-hole pegboard test, PATA speech test, and low-contrast letter acuity vision charts. The present study examines the rate of disease progression over one and two years in a cohort of 236 Friedreich ataxia patients using these scales and performance measure composites. The Friedreich Ataxia Rating Scale and performance-measure composites captured disease progression, with a greater sensitivity to change over two years than over one year. The measures differed in their sensitivity to change and in possible bias. These results help to establish norms for progression in FRDA that can be useful in measuring the long-term success of therapeutic agents and defining sample-size calculations for double-blind clinical trials.</p></div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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