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NEURODEGENERATIVE DISEASE

Early treatment is a lifeline for infants with SMA

In the phase 3 SPR1NT trial, pre-symptomatic gene therapy demonstrated impressive clinical outcomes in infants with a genetic diagnosis of spinal muscular atrophy (SMA); long-term safety follow-up of these patients must now be a key priority.

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Fig. 1: OA for presymptomatic spinal muscular atrophy.

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Correspondence to Charlotte J. Sumner.

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Competing interests

C.J.S. has been a consultant for Novartis, Ionis Pharmaceuticals, Biogen, PTC Therapeutics, Roche, Genentech, Cytokinetics, Sarepta, Nura Bio, Atalanta, Shift, Argenx, Biomarin, Scholar Rock, GenEdit, Epirium, and Capsigen. C.J.S. has received research grant from Ionis Pharmaceuticals and currently receives grant support from Roche and Biogen. C.J.S. is a coholder of 2 pending patent applications (BIOL0274USA and BIOL0293WO) with Ionis Pharmaceuticals for antisense oligonucleotides targeting SMN-AS1. C.J.S. receives royalties from Elsevier for the book Spinal Muscular Atrophy: Disease Mechanisms and Therapy (eds Sumner, C. J., Paushkin, S. & Ko, C. P.; Elsevier, 2017). T.O.C. has been a consultant for Avexis/Novartis, Biogen, Catalyst, Cytokinetics, Erydel, Genentech, Ionis, and Scholar Rock. He is/has been a site principal or co-principal investigator for the Biogen EMBRACE, NURTURE, and DEVOTE clinical trials, the Avexis/Novartis STR1VE and STRONG clinical trials, and individual clinical trials with Catabasis, Catalyst, Cytokinetics, Santherra, and Sarepta.

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Sumner, C.J., Crawford, T.O. Early treatment is a lifeline for infants with SMA. Nat Med 28, 1348–1349 (2022). https://doi.org/10.1038/s41591-022-01889-x

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