Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by homozygous deletion or loss-of-function mutation in the survival motor neuron 1 ( SMN1) gene. It is imperative that the patient population (e.g., age, mobility), goals of treatment, and outcomes or endpoints of interest be considered when selecting the appropriate motor function scales and patient-reported outcomes for clinical studies. Each instrument has its strengths and limitations. Fifteen motor function scales and patient-reported outcomes were identified to be commonly used (≥5 studies), of which 11 had available validation assessments. Of the reports screened, 122 were deemed appropriate for inclusion and are discussed in this review (including 24 validation studies for motor function scales or patient-reported outcomes).
Published literature was reviewed up to June 2021 with no start date restriction. A systematic review was conducted to examine utility of motor function scales and patient-reported outcomes in evaluating patients with spinal muscular atrophy. In an evolving treatment landscape, establishing the suitability and limitations of existing motor function scales and patient-reported outcomes used to monitor patients with this disease is important. Spinal muscular atrophy is a heterogeneous disease that results in loss of motor function. The work cannot be changed in any way or used commercially without permission from the journal.
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Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal’s Web site ( This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. Supplemental digital content is available for this article. JS has received personal fees from Hoffmann-La Roche Ltd, during the conduct of the study, and personal fees from Bristol Myers Squibb Intercept Pharma Canada, Inc Sun Pharma Canada, Inc Celgene, Inc Janssen Canada Jazz Pharmaceuticals Canada Multiple Sclerosis Society of Canada Amgen Canada Dermatology Association of Ontario Biogen Global and Gilead, outside the submitted work.įinancial disclosure statements have been obtained, and no conflicts of interest have been reported by the authors or by any individuals in control of the content of this article. ACFA has received personal fees from Hoffmann-La Roche Ltd, during the conduct of the study, and personal fees from Bristol Myers Squibb, Intercept Pharma Canada, Inc Sun Pharma Canada, Inc Celgene, Inc and Jazz Pharmaceuticals Canada, outside the submitted work. JWW, LP, BM, and RH are employed by Hoffmann-La Roche Ltd.
Hoffmann-La Roche Ltd funded the medical writing services used to assist in the development of this manuscript. Wu, PhD, Hoffmann-La Roche Limited, 7070 Mississauga Rd, Mississauga, Ontario, Canada, L5N 5M8. From the Hoffmann-La Roche Limited, Mississauga, Ontario, Canada (JWW, LP, BM, RH) and Synapse Medical Communications, Inc, Oakville, Ontario, Canada (ACFA, JS).Īll correspondence should be addressed to: Jennifer W.
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