Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module.

The Revised upper limb module (RULM) has been increasingly used in clinical trials and in clinical settings. The aim of this study was to use the 'shift analysis' to assess the patterns of lost or gained abilities for each item on the RULM in an untreated cohort, stratified by SMA type, age, SMN2 copy number, and motor functional status. The analysis was performed on 222 12-month paired assessments from 129 individuals (115 assessment from type II and 107 from type III) who had at least two assessments at yearly intervals. There was a loss of one or more activities in 54% in type II and in 29% type III. A gain of one or more activities was found in 42% type II and in 22% type III. There were concomitant gains and losses in 27% in SMA II and in 9% in SMA III. Our results, measuring the number of abilities that are lost or gained, provide an additional method of detecting changes that can be used for the interpretation of the longitudinal data collected in treated SMA individuals.

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Copyright © 2024. 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: Giorgia Coratti reports personal fees from BIOGEN S.R.L. ITALIA, ROCHE, GENESIS PHARMA, NOVARTIS, Biologix, outside the submitted work. Dr Coratti is affiliated with an institution that receives funds for a SMA disease registry (ISMAR); Roberto de Sanctis reports personal fees from BIOGEN S.R.L. ITALIA, ROCHE and NOVARTIS outside the submitted work. Dr De Sanctis is affiliated with an institution that receives funds for a SMA disease registry (ISMAR); Maria C Pera reports personal fees from ROCHE outside the submitted work. Dr Pera is affiliated with an institution that receives funds for a SMA disease registry (ISMAR); Jacqueline Montes reports personal fees from BIOGEN S.R.L. and ROCHE, outside the submitted work. Dr Montes is affiliated with an institution that receives funds for a SMA disease registry (ISMAR); Amy Pasternak reports grants from SMA FOUNDATION, during the conduct of the study. Dr Pasternak is affiliated with an institution that receives funds for a SMA disease registry (ISMAR); Allan M Glanzman received travel/lodging and compensation from Biogen to serve on an advisory board, received licensing fees from Children's Hospital of Philadelphia for the CHOP-INTEND motor scale, institutional support from NOVARTIS, Biogen and Roche for trial training and/or outcome measure review, and personal compensation from ATOM International (Mallinckrodt Pharmaceuticals, Catabasis Pharmaceuticals, ReveraGen Biopharma) for trial training; Aspa Theraputics for outcomes consulting; and Audentes Therapeutics for outcome review. Dr Glanman is affiliated with an institution that receives funds for a SMA disease registry (ISMAR); Sally Dunaway Young reports grants from Stanford Univesity and Columbia University, during the conduct of the study; personal fees from Biogen, Roche/Genentech, Scholar Rock, Cure SMA, grants from SMA Foundation, outside the submitted work. Dr Dunaway Young is affiliated with an institution that receives funds for a SMA disease registry (ISMAR); Marika Pane reports personal fees from BIOGEN S.R.L., PTC, NOVARTIS, SAREPTA, outside the submitted work. Dr Pane is affiliated with an institution that receives funds for a SMA disease registry (ISMAR); Mariacristina Scoto was CO-PI for SMA REACH UK, during the conduct of the study; received personal fees from ROCHE as PI (jewelfish) and member of advisory board, outside the submitted work. Dr Scoto is affiliated with an institution that receives funds for a SMA disease registry (ISMAR); Sonia Messina reports personal fees from BIOGEN S.R.L., NOVARTIS, PTC THERAPEUTICS, SANTHERA, outside the submitted work. Dr Messina is affiliated with an institution that receives funds for a SMA disease registry (ISMAR); Adele D'Amico reports personal fees from BIOGEN S.R.L., SAREPTA, NOVARTIS, outside the submitted work. Dr D'Amico is affiliated with an institution that receives funds for a SMA disease registry (ISMAR); Emilio Albamonte reports personal fees from BIOGEN S.R.L. outside the submitted work. Dr Albamonte is affiliated with an institution that receives funds for a SMA disease registry (ISMAR); Francesca Bovis reports personal fees from BIOGEN outside the submitted work. Basil T Darras reports personal fees from Biogen, NOVARTIS, Roche, Pfizer, Sarepta, PTC, outside the submitted work. Dr Darras is affiliated with an institution that receives funds for a SMA disease registry (ISMAR); Enrico Bertini reports personal fees from BIOGEN S.R.L., NOVARTIS, ROCHE, outside the submitted work. Dr Bertini is affiliated with an institution that receives funds for a SMA disease registry (ISMAR); Dr Bertini was supported by the Italian Ministry of Health with Current Research funds, Ministry of Health and by Ricerca Finalizzata RF-2019-12370334. Valeria A Sansone reports personal fees from BIOGEN S.R.L, NOVARTIS, SANTHERA, SAREPTA, PTC, outside the submitted work. Dr Sansone is affiliated with an institution that receives funds for a SMA disease registry (ISMAR); John Day reports personal fees from NOVARTIS, ROCHE, BIOGEN S.R.L., Novartis, outside the submitted work. Dr Day is affiliated with an institution that receives funds for a SMA disease registry (ISMAR); Francesco Muntoni reports grants from Biogen, grants from Biogen, personal fees from Biogen, grants from NOVARTIS, personal fees from NOVARTIS, personal fees from Roche, during the conduct of the study; personal fees from Pfizer, grants from Sarepta, personal fees from Sarepta, personal fees from PTC, outside the submitted work. Dr Muntoni is affiliated with an institution that receives funds for a SMA disease registry (ISMAR); Dr Muntoni institutions receive registry funding (SMA REACH UK) from Biogen, Roche and Novartis; he also declares compensation for educational activities and advisory boards with Roche and Novartis; Darryl C. De Vivo reports personal fees from NOVARTIS, ROCHE, BIOGEN S.R.L., Cytokinetics Pharmaceuticals, outside the submitted work. Dr De Vivo is affiliated with an institution that receives funds for a SMA disease registry (ISMAR); Giovanni Baranello reports personal fees from NOVARTIS, ROCHE, BIOGEN S.R.L., Novartis, outside the submitted work. Dr Baranello is affiliated with an institution that receives funds for a SMA disease registry (ISMAR); Richard Finkel reports personal fees from NOVARTIS, ROCHE, BIOGEN S.R.L., Novartis, outside the submitted work. Dr Finkel is affiliated with an institution that receives funds for a SMA disease registry (ISMAR); Eugenio Mercuri reports personal fees from NOVARTIS, ROCHE, BIOGEN S.R.L., PTC THERAPEUTICS, SAREPTA, SANTHERA, SCHOLAR ROCK, outside the submitted work. Dr Mercuri is affiliated with an institution that receives funds for a SMA disease registry (ISMAR); Annemarie Rohwer, Irene Mizzoni, Simone Morando, Evelin Milev, Michela Catteruccia, Noemi Brolatti, Francesca Salmin, Matthew Civitello, Maria Sframeli, Zarazuela Zolkipli-Cunningham, Michio Hirano, Tina Duong, are affiliated with an institution that receives funding from BIOGEN, ROCHE and NOVARTIS for a SMA disease registry (ISMAR),