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January 29, 2019; 92 (5) ArticleOpen Access

Assessment of disease progression in dysferlinopathy

A 1-year cohort study

Ursula Moore, Marni Jacobs, Meredith K. James, Anna G. Mayhew, Roberto Fernandez-Torron, Jia Feng, Avital Cnaan, Michelle Eagle, Karen Bettinson, Laura E. Rufibach, Robert Muni Lofra, Andrew M. Blamire, Pierre G. Carlier, View ORCID ProfilePlavi Mittal, Linda Pax Lowes, Lindsay Alfano, Kristy Rose, Tina Duong, Katherine M. Berry, Elena Montiel-Morillo, Irene Pedrosa-Hernández, Scott Holsten, Mohammed Sanjak, Ai Ashida, Chikako Sakamoto, Takayuki Tateishi, Hiroyuki Yajima, Aurélie Canal, Gwenn Ollivier, Valerie Decostre, Juan Bosco Mendez, Nieves Sánchez-Aguilera Praxedes, Simone Thiele, Catherine Siener, Jeanine Shierbecker, Julaine M. Florence, Bruno Vandevelde, Brittney DeWolf, Meghan Hutchence, Richard Gee, Juliana Prügel, Elke Maron, Heather Hilsden, Hanns Lochmüller, Ulrike Grieben, View ORCID ProfileSimone Spuler, Carolina Tesi Rocha, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Matthew Harms, Alan Pestronk, Sabine Krause, Olivia Schreiber-Katz, Maggie C. Walter, Carmen Paradas, Jean-Yves Hogrel, Tanya Stojkovic, Shin'ichi Takeda, Madoka Mori-Yoshimura, Elena Bravver, Susan Sparks, Jordi Díaz-Manera, Luca Bello, Claudio Semplicini, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Volker Straub, for the Jain COS Consortium
First published January 9, 2019, DOI: https://doi.org/10.1212/WNL.0000000000006858
Ursula Moore
From the John Walton Muscular Dystrophy Research Centre (U.M., M.K.J., A.G.M., R.F.-T., M.E., K.B., R.M.L., H.H., H.L., K.B., V.S.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Central Parkway, Newcastle Upon Tyne, UK; Center for Translational Science (M.J., J.F., A. Cnaan), Division of Biostatistics and Study Methodology, Cooperative International Neuromuscular Research Group (T.D., B.D.), and Department of Neurology (D.X.B.-G.), Children's National Health System; Pediatrics, Epidemiology and Biostatistics (M.J., A. Cnaan), George Washington University, Washington, DC; Neuromuscular Area (R.F.-T.), Biodonostia Health Research Institute, Neurology Service, Donostia University Hospital, Donostia-San Sebastian, Spain; Jain Foundation (L.E.R., P.M.), Seattle, WA; Magnetic Resonance Centre (A.M.B.), Institute of Cellular Medicine, Newcastle University, Newcastle Upon Tyne, UK; AIM & CEA NMR Laboratory (P.G.C.), Institute of Myology, Pitié-Salpêtrière University Hospital, 47-83, Paris, France; Research Institute at Nationwide Children's Hospital (L.P.L., L.A., K.M.B., J.R.M.), The Ohio State University, Columbus; Institute for Neuroscience and Muscle Research (K.R., M. Hutchence, K.J.J.), Children's Hospital at Westmead, University of Sydney, Australia; Lucile Salter Packard Children's Hospital at Stanford (T.D.), 24349, Neurology, Palo Alto, CA; Physical Medicine and Rehabilitation (E.M.-M., I.P.-H.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Neuroscience Institute (S.H., M.S., E.B., S. Sparks), Carolinas Neuromuscular/ALS-MDA Center, Carolinas HealthCare System, Charlotte, NC; Department of Physical Rehabilitation (A.A., C. Sakamoto, T.T., H.Y.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan; Institut de Myologie (A. Canal, G.O., V.D., J.-Y.H., T.S.), AP-HP, GH Pitié-Salpêtrière, Paris, France; Neurorehabilitation Unit (J.B.M.), Rehabilitation Hospital Universitario Virgen del Rocío Sevilla; Neurophysiotherapy Department (N.S.-A.P.), Hospital Universitario Virgen del Rocío, Seville, Spain; Friedrich-Baur-Institute (S. Thiele, S.K., O.S.-K. M.C.W.), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Neurology (C. Siener, J.S., J.M.F., M. Harms, A.P.), Washington University School of Medicine, St. Louis, MO; Centre de Reference des Maladies Neuromusculaires PACA Réunion Rhone Alpes (B.V., E.S.-C.), Hopital de la Timone, Aix-Marseille Université, France; ELAN-PHYSIO (J.P., E.M.), Praxis für Physiotherapie Maron; Charite Muscle Research Unit (U.G., S. Spuler), Experimental and Clinical Research Center, a joint cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine, Berlin, Germany; Department of Neurology and Neurological Sciences (C.T.R., J.W.D.), Stanford University School of Medicine, CA; NIH (D.X.B.-G.), Bethesda, MD; Neuromuscular Unit (C.P.), Department of Neurology, Hospital U. Virgen del Rocío/Instituto de Biomedicina de Sevilla, Spain; Department of Neurology (S. Takeda, M.M.-Y.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan; Centro de Investigación Biomédica en Red en Enfermedades Raras (J.D.-M.); Neuromuscular Disorders Unit (J.D.-M.), Neurology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; and Department of Neuroscience (L.B., C. Semplicini, E.P.), University of Padova, Italy.
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Marni Jacobs
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Citation
Assessment of disease progression in dysferlinopathy
A 1-year cohort study
Ursula Moore, Marni Jacobs, Meredith K. James, Anna G. Mayhew, Roberto Fernandez-Torron, Jia Feng, Avital Cnaan, Michelle Eagle, Karen Bettinson, Laura E. Rufibach, Robert Muni Lofra, Andrew M. Blamire, Pierre G. Carlier, Plavi Mittal, Linda Pax Lowes, Lindsay Alfano, Kristy Rose, Tina Duong, Katherine M. Berry, Elena Montiel-Morillo, Irene Pedrosa-Hernández, Scott Holsten, Mohammed Sanjak, Ai Ashida, Chikako Sakamoto, Takayuki Tateishi, Hiroyuki Yajima, Aurélie Canal, Gwenn Ollivier, Valerie Decostre, Juan Bosco Mendez, Nieves Sánchez-Aguilera Praxedes, Simone Thiele, Catherine Siener, Jeanine Shierbecker, Julaine M. Florence, Bruno Vandevelde, Brittney DeWolf, Meghan Hutchence, Richard Gee, Juliana Prügel, Elke Maron, Heather Hilsden, Hanns Lochmüller, Ulrike Grieben, Simone Spuler, Carolina Tesi Rocha, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Matthew Harms, Alan Pestronk, Sabine Krause, Olivia Schreiber-Katz, Maggie C. Walter, Carmen Paradas, Jean-Yves Hogrel, Tanya Stojkovic, Shin'ichi Takeda, Madoka Mori-Yoshimura, Elena Bravver, Susan Sparks, Jordi Díaz-Manera, Luca Bello, Claudio Semplicini, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Volker Straub, for the Jain COS Consortium
Neurology Jan 2019, 92 (5) e461-e474; DOI: 10.1212/WNL.0000000000006858

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Abstract

Objective To assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year.

Methods One 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.

Results The 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.

Conclusion Certain 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.

Glossary

a-NSAA=
adapted North Star Ambulatory Assessment;
COS=
Jain Clinical Outcome Study in Dysferlinopathy;
HHD=
hand-held dynamometry;
LGMD2B=
limb girdle muscular dystrophy 2B;
MFM=
Motor Function Measure;
MMT=
manual muscle testing;
6MWT=
6-minute walk test;
SRM=
standardized response mean

Footnotes

  • Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

  • The Jain COS Consortium coinvestigators are listed in the Appendix at the end of the article.

  • The Article Processing Charge was funded by the Jain Foundation.

  • Received May 4, 2018.
  • Accepted in final form October 1, 2018.
  • Copyright © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

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