Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes.

The aim of the study was to establish 24-month changes in a large cohort of type II and III spinal muscular atrophy (SMA) patients assessed with the Revised Upper Limb Module (RULM), a tool specifically developed to assess upper limb function in SMA. We included 107 patients (54 type II and 53 type III) with at least 24-months follow up. The overall RULM 24-month changes showed a mean decline of -0.79 points. The difference between baseline and 24 months was significant in type II but not in type III patients. There was also a difference among functional subgroups but not in relation to age. Most patients had 24-month mean changes within 2 points, with 23% decreasing more than 2 points and 7% improving by >2 points. Our results suggest an overall progressive decline in upper limb function over 24 months. The negative changes were most notable in type II, in non-ambulant type III and with a different pattern of progression, also in non-sitter type II. In contrast, ambulant type III showed relative stability within the 24-month follow up. These findings will help in the interpretation of the real world data collected following the availability of new therapeutic approaches.
Competing Interests: Declarations of Competing Interest Giorgia Coratti reports personal fees from BIOGEN S.R.L. ITALIA, ROCHE, GENESIS PHARMA, AVEXIS, Biologix, outside the submitted work; Roberto de Sanctis reports personal fees from BIOGEN S.R.L. ITALIA and AVEXIS outside the submitted work; Maria C Pera reports personal fees from ROCHE outside the submitted work; Jacqueline Montes reports personal fees from BIOGEN S.R.L. and ROCHE, outside the submitted work Amy Pasternak reports grants from SMA FOUNDATION, during the conduct of the study; Elena Stacy Mazzone reports personal fees from BIOGEN S.R.L., ROCHE, AVEXIS, SCHOLAR ROCK, outside the submitted work; 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 AveXis, 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. 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; Marika Pane reports personal fees from BIOGEN S.R.L., PTC, AVEXIS, SAREPTA, outside the submitted work; 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; Sonia Messina reports personal fees from BIOGEN S.R.L., AVEXIS, PTC THERAPEUTICS, SANTHERA, outside the submitted work; Adele D'Amico reports personal fees from BIOGEN S.R.L., SAREPTA, NOVARTIS, outside the submitted work; Emilio Albamonte reports personal fees from BIOGEN S.R.L. outside the submitted work; Basil T Darras reports personal fees from Biogen, Avexis, Roche, Pfizer, Sarepta, PTC, outside the submitted work; Enrico Bertini reports personal fees from BIOGEN S.R.L., AVEXIS, ROCHE, outside the submitted work; Valeria A Sansone reports personal fees from BIOGEN S.R.L, AVEXIS, SANTHERA, SAREPTA, PTC, outside the submitted work; John Day reports personal fees from AVEXIS, ROCHE, BIOGEN S.R.L., Novartis, outside the submitted work Claudio Bruno reports personal fees from Biogen, from Avexis, from Roche, outside the submitted work; Francesco Muntoni reports grants from Biogen, personal fees from Biogen, grants from Avexis, personal fees from Avexis, 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; Darryl C. De Vivo reports personal fees from AVEXIS, ROCHE, BIOGEN S.R.L., Cytokinetics Pharmaceuticals, outside the submitted work; Richard Finkel reports personal fees from AVEXIS, ROCHE, BIOGEN S.R.L., Novartis, outside the submitted work; Eugenio Mercuri reports personal fees from AVEXIS, ROCHE, BIOGEN S.R.L., PTC THERAPEUTICS, SAREPTA, SANTHERA, outside the submitted work; Evelin Milev, Laura Antonaci, Annalia Frongia, Matthew Civitello, Maria Sframeli, Massimo Russo, Tina Duong, have nothing to disclose.
(Copyright © 2021 Elsevier B.V. All rights reserved.)