Assessment of disease progression in dysferlinopathy : A 1-year cohort study
Moore, U. (Newcastle University)
Jacobs, Marni (George Washington University)
James, Meredith K (Newcastle University. John Walton Muscular Dystrophy Research Centre)
Mayhew, Anna G. (Newcastle University. John Walton Muscular Dystrophy Research Centre)
Fernandez-Torron, Roberto (Biodonostia Osasun Ikerketako Institutura (País Basc))
Feng, Jia (Center for Translational Science. Division of Biostatistics and Study Methodolog)
Cnaan, Avital (GeorgeWashington University)
Eagle, Michelle (Newcastle University. John Walton Muscular Dystrophy Research Centre)
Bettinson, Karen (Newcastle University)
Rufibach, Laura E. (Jain Foundation)
Lofra, Robert M. (Newcastle University)
Blamire, Andrew (Newcastle University)
Carlier, Pierre G.
Mittal, Plavi (Jain Foundation)
Lowes, Linda P. (The Ohio State University)
Alfano, Lindsay N (The Ohio State University)
Rose, Kristy (Institute for Neuroscience andMuscle Research. ChildrensHospital atWestmead. University of Sydney)
Duong, Tina (Lucile Salter Packard ChildrensHospital at Stanford)
Berry, Katherine M. (Research Institute at Nationwide Childrens Hospital. TheOhio State University)
Montiel Morillo, Elena (Institut d'Investigació Biomèdica Sant Pau)
Pedrosa-Hernández, Irene (Institut d'Investigació Biomèdica Sant Pau)
Holsten, Scott (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System)
Sanjak, Mohammed (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System)
Ashida, Ai (Department of Physical Rehabilitation. National Center Hospital. National Center of Neurology and Psychiatry)
Sakamoto, Chikako (Department of Physical Rehabilitation. National Center Hospital. National Center of Neurology and Psychiatry)
Tateishi, Takayuki (Department of Physical Rehabilitation. National Center Hospital. National Center of Neurology and Psychiatry)
Yajima, Hiroyuki (Department of Physical Rehabilitation. National Center Hospital. National Center of Neurology and Psychiatry)
Canal, Aurélie (Institut deMyologie (París, França))
Ollivier, Gwenn (Institut deMyologie (París, França))
Decostre, Valerie (Institut deMyologie (París, França))
Mendez, Juan Bosco (Instituto de Biomedicina de Sevilla)
Praxedes, Nieves S. A. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia))
Thiele, Simone (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians-University of Munich)
Siener, Catherine (Department of Neurology. Washington University School of Medicine)
Shierbecker, Jeanine (Department of Neurology. Washington University School of Medicine)
Florence, Julaine M. (Cooperative International Neuromuscular Research Group. Department of Neurology)
Vandevelde, Bruno (Centre de Reference des Maladies Neuromusculaires PACA Racute;eunion Rhone Alpes. Hopital de la Timone. Aix-Marseille Universitacute;e)
DeWolf, Brittney (Cooperative International Neuromuscular Research Group. Department of Neurology)
Hutchence, Meghan (Institute for Neuroscience andMuscle Research. ChildrensHospital atWestmead. University of Sydney)
Gee, Richard (Newcastle University. John Walton Muscular Dystrophy Research Centre)
Prügel, Juliana (ELAN-PHYSIO. Praxis fur Physiotherapie Maron)
Maron, Elke (ELAN-PHYSIO. Praxis fur Physiotherapie Maron)
Hilsden, Heather (Newcastle University. John Walton Muscular Dystrophy Research Centre)
Lochmüller, Hanns (Newcastle University. John Walton Muscular Dystrophy Research Centre)
Grieben, Ulrike (Charité-Universitätsmedizin Berlin)
Spuler, Simone (Charité-Universitätsmedizin Berlin)
Rocha, Carolina T. (Department of Neurology and Neurological Sciences. Stanford University School ofMedicine)
Day, John W. (Department of Neurology and Neurological Sciences. Stanford University School ofMedicine)
Jones, Kristi J. (Institute for Neuroscience andMuscle Research. ChildrensHospital atWestmead. University of Sydney)
Bharucha-Goebel, Diana (NIH)
Salort-Campana, Emmanuelle (Centre de Reference des Maladies Neuromusculaires PACA Racute;eunion Rhone Alpes. Hopital de la Timone. Aix-Marseille Universitacute;e)
Harms, Matthew (Department of Neurology. Washington University School of Medicine)
Pestronk, Alan (Department of Neurology. Washington University School of Medicine)
Krause, Sabine (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians-University of Munich)
Schreiber-Katz, Olivia (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians-University of Munich)
Walter, Maggie C. (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians-University of Munich)
Paradas, Carmen (Instituto de Biomedicina de Sevilla)
Hogrel, J.Y (Institut de Myologie (París, França))
Stojkovic, Tanya (Institut deMyologie (París, França))
Takeda, Shin'ichi (DepartmentofNeurology. NationalCenterHospital. National Center ofNeurology and Psychiatry)
Mori-Yoshimura, Madoka (DepartmentofNeurology. NationalCenterHospital. National Center ofNeurology and Psychiatry)
Bravver, Elena (Institut d'Investigació Biomèdica Sant Pau)
Sparks, Susan (Institut d'Investigació Biomèdica Sant Pau)
Diaz-Manera, Jordi. (Institut d'Investigació Biomèdica Sant Pau)
Bello, Luca (Institut d'Investigació Biomèdica Sant Pau)
Semplicini, Claudio (Institut d'Investigació Biomèdica Sant Pau)
Pegoraro, Elena (Institut d'Investigació Biomèdica Sant Pau)
Mendell, Jerry R. (The Ohio State University. Research Institute at Nationwide Childrens Hospital)
Bushby, Kate (Newcastle University. John Walton Muscular Dystrophy Research Centre)
Straub, Volker (Newcastle University. John Walton Muscular Dystrophy Research Centre)
Universitat Autònoma de Barcelona

Data:	2019
Resum:	ObjectiveTo assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year. MethodsOne hundred ninety-three patients with dysferlinopathy were recruited to the Jain Foundation's International Clinical Outcome Study for Dysferlinopathy. Baseline, 6-month, and 1-year assessments included adapted North Star Ambulatory Assessment (a-NSAA), Motor Function Measure (MFM-20), timed function tests, 6-minute walk test (6MWT), Brooke scale, Jebsen test, manual muscle testing, and hand-held dynamometry. Patients also completed the ACTIVLIM questionnaire. Change in each measure over 6 months and 1 year was calculated and compared between disease severity (ambulant [mild, moderate, or severe based on a-NSAA score] or nonambulant [unable to complete a 10-meter walk]) and clinical diagnosis. ResultsThe functional a-NSAA test was the most sensitive to deterioration for ambulant patients overall. The a-NSAA score was the most sensitive test in the mild and moderate groups, while the 6MWT was most sensitive in the severe group. The 10-meter walk test was the only test showing significant change across all ambulant severity groups. In nonambulant patients, the MFM domain 3, wrist flexion strength, and pinch grip were most sensitive. Progression rates did not differ by clinical diagnosis. Power calculations determined that 46 moderately affected patients are required to determine clinical effectiveness for a hypothetical 1-year clinical trial based on the a-NSAA as a clinical endpoint. ConclusionCertain functional outcome measures can detect changes over 6 months and 1 year in dysferlinopathy and potentially be useful in monitoring progression in clinical trials. ClinicalTrials. gov identifier:NCT01676077.
Nota:	Altres ajuts: The estimated US 4 million needed to fund this study is being provided by the Jain Foundation. The John Walton Centre Muscular Dystrophy Research Centre is part of the MRC Centre for Neuromuscular Diseases (grant MR/K000608/1).
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Publicat a:	Neurology, Vol. 92 Núm. 5 (29 2019) , p. E461-E474, ISSN 1526-632X

DOI: 10.1212/WNL.0000000000006858
PMID: 30626655

14 p, 396.7 KB

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