A new respiratory scoring system for evaluation of respiratory outcomes in children with spinal muscular atrophy type1 (SMA1) on SMN enhancing drugs.

Nusinersen (NUS), the first treatment approved for Spinal Muscular Atrophy type 1 (SMA1), was made available in the UK for SMA1 through the Expanded Access Program (EAP) in 2017. The Great Ormond Street Respiratory (GSR) score was developed as an objective respiratory assessment for children with SMA1 during their treatment. Aims: Track respiratory status of SMA1 children over the course of Nusinersen treatment and compare GSR scores amongst SMA1 sub-types. Single centre study on SMA1 patients using the GSR score at set time points: prior to first NUS dose; 2 weeks post end of loading doses; 2 weeks post-subsequent doses. GSR score ranges 1-28, being 1-9 = Stable minimal support, thorough to 23-28 = Poor reserve with maximum support. 20 SMA1 children underwent NUS treatment between January 2017 - November 2018. Median age of diagnosis was 5.0 months. NUS started at median of 9.57 months. From 5th dose onwards, GSR scores were significantly lower for Type 1C patients compared to Type 1B By month 18, irrespective of subtypes, the whole cohort appears to stabilise GSR Scores. As treatment duration increases, an overall stabilisation of respiratory status across the cohort was observed. Further longitudinal studies are needed to validate the GSR.

Informations de copyright

Copyright © 2021 Elsevier B.V. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of Competing Interest Edel L(a): Coinvestigator for SH1NE and SPR1NT studies, Advisory boards for Biogen, Roche and Avexis Grime C(a): No declarations Robinson V(a): No declarations Manzur A(a): No declarations Abel F(a): Coinvestigator for SH1NE and SPR1NT studies, Advisory boards for Avexis Munot P(a): Sub investigator for SH1NE study Ridout D(a): No declarations Scoto M(a,b): Investigator in clinical trials for Avexis, Biogen and Roche. She has received honoraria for participating at symposia and advisory boards for Biogen, Avexis and Roche. Her institution receives funding from Biogen for the coordination of a UK wide registry for SMA, the SMA REACH UK Muntoni F(a,b, c): Participation to Scientific Advisory boards and teaching initiatives for Avexis, Biogen, Roche and Novartis. He is member of the Rare Disease Scientific Advisory Board for Pfizer. He is involved as an investigator in clinical trials from Avexis, Biogen and Roche. In addition he is the principal investigator of the SMA REACH UK clinical network, partially funded by Biogen and by SMA UK. Chan E(a): No declarations