Digital measures of respiratory and upper limb function in spinal muscular atrophy: design, feasibility, reliability, and preliminary validity of a smartphone sensor-based assessment suite.

Spinal muscular atrophy (SMA) is characterized by progressive muscle weakness and paralysis. Motor function is monitored in the clinical setting using assessments including the 32-item Motor Function Measure (MFM-32), but changes in disease severity between clinical visits may be missed. Digital health technologies may assist evaluation of disease severity by bridging gaps between clinical visits. We developed a smartphone sensor-based assessment suite, comprising nine tasks, to assess motor and muscle function in people with SMA. We used data from the risdiplam phase 2 JEWELFISH trial to assess the test-retest reliability and convergent validity of each task. In the first 6 weeks, 116 eligible participants completed assessments on a median of 6.3 days per week. Eight of the nine tasks demonstrated good or excellent test-retest reliability (intraclass correlation coefficients >0.75 and >0.9, respectively). Seven tasks showed a significant association (P < 0.05) with related clinical measures of motor function (individual items from the MFM-32 or Revised Upper Limb Module scales) and seven showed significant association (P < 0.05) with disease severity measured using the MFM-32 total score. This cross-sectional study supports the feasibility, reliability, and validity of using smartphone-based digital assessments to measure function in people living with SMA.

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Copyright © 2023. Published by Elsevier B.V.

Déclaration de conflit d'intérêts

Declaration of Competing Interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Thanneer Malai Perumal, Detlef Wolf, Grégoire Pointeau, Yan-Ping Zhang, Wei-Yi Cheng and Florian Lipsmeier are employees of F. Hoffmann-La Roche and hold stock or stock options. Christian Czech was an employee of F. Hoffmann-La Roche during the conduct of the study and holds stock or stock options. Michael Lindemann is a consultant and Doris Berchtold is a contractor to F. Hoffmann-La Roche Ltd. Jörg Sprengel was a contractor to F. Hoffmann-La Roche during the conduct of the study. Claudia Chiriboga has received research funding from Biogen, Genentech, Novartis, and Roche, has served as a consultant on advisory boards for AveXis, Genentech, Novartis, PTC, and Roche, and participated as a panel member or speaker in educational sessions for Biogen, Genentech, and Roche.