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Assessing dysferlinopathy patients over three years with a new motor scale

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Item Type:Article
Title:Assessing dysferlinopathy patients over three years with a new motor scale
Creators Name:Jacobs, M. and James, M.K. and Lowes, L.P. and Alfano, L.N. and Eagle, M. and Lofra, R.M. and Moore, U. and Feng, J. and Rufibach, L.E. and Rose, K. and Duong, T. and Bello, L. and Pedrosa-Hernández, I. and Holsten, S. and Sakamoto, C. and Canal, A. and Práxedes, N.S.A. and Thiele, S. and Siener, C. and Vandevelde, B. and DeWolf, B. and Maron, E. and Guglieri, M. and Hogrel, J.Y. and Blamire, A.M. and Carlier, P.G. and Spuler, S. and Day, J.W. and Jones, K.J. and Bharucha-Goebel, D.X. and Salort-Campana, E. and Pestronk, A. and Walter, M.C. and Paradas, C. and Stojkovic, T. and Mori-Yoshimura, M. and Bravver, E. and Díaz-Manera, J. and Pegoraro, E. and Mendell, J.R. and Mayhew, A.G. and Straub, V.
Abstract: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 dysferlinopathy patients over three years. Rasch analysis was used to develop the NSAD, a motor performance scale suitable for ambulant and non-ambulant 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 3-8 years post symptom onset at baseline. INTERPRETATION: The NSAD is the first validated limb girdle specific scale of motor performance, suitable for use in clinics 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.
Keywords:Age of Onset, Clinical Trials as Topic, Cohort Studies, Disease Progression, Longitudinal Studies, Limb-Girdle Muscular Dystrophies, Psychometrics, Treatment Outcome
Source:Annals of Neurology
Page Range:967-978
Date:May 2021
Official Publication:https://doi.org/10.1002/ana.26044
PubMed:View item in PubMed

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