Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale
Jacobs, M.B. (Pediatrics. Epidemiology. and Biostatistics. George Washington University)
James, Meredith K (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway)
Lowes, Linda P (The Abigail Wexner Research Institute at Nationwide Children's Hospital)
Alfano, Lindsay N (The Abigail Wexner Research Institute at Nationwide Children's Hospital)
Eagle, M. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway)
Muni Lofra, R. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway)
Moore, U. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway)
Feng, J. (Center for Translational Science. Division of Biostatistics and Study Methodology. Children's National Health System)
Rufibach, L.E. (The Jain Foundation)
Rose, K. (The Children's Hospital at Westmead. The University of Sydney)
Duong, T. (Lucile Salter Packard Children's Hospital at Stanford)
Bello, Luca (Department of Neuroscience. University of Padova)
Pedrosa-Hernández, Irene (Institut d'Investigació Biomèdica Sant Pau)
Holsten, Scott (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System)
Sakamoto, C. (Department of Physical Rehabilitation. National Center Hospital. National Center of Neurology and Psychiatry)
Canal, Aurélie (Institut de Myologie. AP-HP. GH Pitié-Salpêtrière)
Sanchez-Aguilera Práxedes, N. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia))
Thiele, S. (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians University of Munich)
Siener, C. (Department of Neurology Washington University School of Medicine)
Vandevelde, B. (Service des Maladies Neuromusculaire et de la SLA. Hôpital de La Timone)
DeWolf, Brittney (Cooperative International Neuromuscular Research Group (CINRG). Children's National Health System)
Maron, E. (ELAN-PHYSIO. Praxis für Physiotherapie Maron)
Guglieri, M. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway)
Hogrel, J.Y. (Institut de Myologie (París, França))
Blamire, Andrew (Magnetic Resonance Centre. Institute for Cellular Medicine. Newcastle University)
Carlier, Pierre G (AIM & CEA NMR Laboratory. Institute of Myology. Pitié-Salpêtrière University Hospital)
Spuler, S. (Charite Muscle Research Unit. Experimental and Clinical Research Center. a joint cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine)
Day, John W (Department of Neurology and Neurological Sciences. Stanford University School of Medicine)
Jones, K.J. (The Children's Hospital at Westmead. The University of Sydney)
Bharucha-Goebel, Diana (National Institutes of Health (Bethesda, Estats Units d'Amèrica))
Salort-Campana, E. (Service des Maladies Neuromusculaire et de la SLA. Hôpital de La Timone)
Pestronk, Alan (Washington University School of Medicine)
Walter, Maggie C (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians University of Munich)
Paradas, C. (Instituto de Biomedicina de Sevilla)
Stojkovic, T. (Institut de Myologie. AP-HP. GH Pitié-Salpêtrière)
Mori-Yoshimura, Madoka (National Center of Neurology and Psychiatry Tokyo)
Bravver, Elena (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System)
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau)
Pegoraro, Elena (University of Padova)
Mendell, J. R. (The Abigail Wexner Research Institute at Nationwide Children's Hospital)
Mayhew, A.G. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway)
Straub, Volker (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway)

Data:	2021
Resum:	Objective: Dysferlinopathy is a muscular dystrophy with a highly variable clinical presentation and currently unpredictable progression. This variability and unpredictability presents difficulties for prognostication and clinical trial design. The Jain Clinical Outcomes Study of Dysferlinopathy aims to establish the validity of the North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) scale and identify factors that influence the rate of disease progression using NSAD. Methods: We collected a longitudinal series of functional assessments from 187 patients with dysferlinopathy over 3 years. Rasch analysis was used to develop the NSAD, a motor performance scale suitable for ambulant and nonambulant patients. Generalized estimating equations were used to evaluate the impact of patient factors on outcome trajectories. Results: The NSAD detected significant change in clinical progression over 1 year. The steepest functional decline occurred during the first 10 years after symptom onset, with more rapid decline noted in patients who developed symptoms at a younger age (p = 0. 04). The most rapidly deteriorating group over the study was patients 3 to 8 years post symptom onset at baseline. Interpretation: The NSAD is the first validated limb girdle specific scale of motor performance, suitable for use in clinical practice and clinical trials. Longitudinal analysis showed it may be possible to identify patient factors associated with greater functional decline both across the disease course and in the short-term for clinical trial preparation. Through further work and validation in this cohort, we anticipate that a disease model incorporating functional performance will allow for more accurate prognosis for patients with dysferlinopathy. ANN NEUROL 2021;89:967-978.
Nota:	Altres ajuts: Jain Foundation.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Adolescent ; Adult ; Age of Onset ; Aged ; Aged, 80 and over ; Child ; Clinical Trials as Topic ; Cohort Studies ; Disease Progression ; Female ; Humans ; Longitudinal Studies ; Male ; Middle Aged ; Muscular Dystrophies, Limb-Girdle ; Psychometrics ; Treatment Outcome ; Young Adult
Publicat a:	Annals of neurology, Vol. 89 Núm. 5 (may 2021) , p. 967-978, ISSN 1531-8249

DOI: 10.1002/ana.26044
PMID: 33576057

12 p, 2.7 MB

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