Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen.

Neuromuscular Disorders : NMD
Giorgia CorattiiSMAC group

Abstract

Previous natural history studies suggest that type II SMA patients remain stable over one year but show some progression over two years. Since nusinersen approval, there has been increasing attention to identify more specific age-related changes. The aim of the study was to establish 12-month changes in a cohort of pediatric type II SMA treated with nusinersen and to establish possible patterns of treatment effect in relation to different variables such as age, baseline value and SMN2 copy number. The Hammersmith Functional Motor Scale Expanded and the Revised Upper Limb Module were performed at T0 and 12 months after treatment (T12). Data in treated patients were compared to available data in untreated patients collected by the same evaluators.Seventy-seven patients of age between 2.64 and 17.88 years (mean:7.47, SD:3.79) were included. On t-test there was an improvement, with increased mean scores between T0 and T12 on both scales (p < 0.001). Using multivariate linear regression analysis, age and baseline scores were predictive of changes on both scales (p < 0.05) while SMN2 copy number was not. Differences were also found between study cohort and untreated data on both scales (p < 0.001). At 12 months, an increase in scores...Continue Reading

References

Jul 17, 2003·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Marion MainFrancesco Muntoni
Jul 31, 2007·Neuromuscular Disorders : NMD·Jessica M O'HagenDarryl C De Vivo
Nov 4, 2011·Orphanet Journal of Rare Diseases·Adele D'AmicoEnrico Bertini
Apr 21, 2012·Lancet Neurology·Eugenio MercuriSusan T Iannaccone
Apr 23, 2013·Archives of Physical Medicine and Rehabilitation·Capucine de LattreUNKNOWN MFM-20 Study Group
Jan 19, 2016·Neuromuscular Disorders : NMD·Eugenio MercuriDarryl C De Vivo
Oct 5, 2016·Muscle & Nerve·Elena S MazzoneEugenio Mercuri
Feb 25, 2017·BMC Neurology·Maria C PeraEugenio Mercuri
Nov 2, 2017·The New England Journal of Medicine·Richard S FinkelUNKNOWN ENDEAR Study Group
Feb 15, 2018·The New England Journal of Medicine·Eugenio MercuriUNKNOWN CHERISH Study Group
Jun 21, 2018·Pediatric Physical Therapy : the Official Publication of the Section on Pediatrics of the American Physical Therapy Association·Rachel SalazarDarryl C De Vivo
Aug 31, 2018·Neurology·Karolina Aragon-GawinskaLaurent Servais
Jan 25, 2019·Muscle & Nerve·Maria Carmela PeraUNKNOWN iSMAC Consortium Group
Jun 23, 2019·Annals of Neurology·Marika PaneUNKNOWN Italian Expanded Access Program Working Group
Jul 13, 2019·Muscle & Nerve·Jacqueline MontesUNKNOWN CS2 and CS12 Study Groups
Sep 29, 2019·Neuromuscular Disorders : NMD·Eugenio MercuriUNKNOWN iSMAC Group
Oct 9, 2019·Journal of Neuromuscular Diseases·Maggie C WalterBenedikt Schoser
Nov 28, 2019·Muscle & Nerve·Aravindhan VeerapandiyanEmma Ciafaloni
Mar 18, 2020·Therapeutic Advances in Neurological Disorders·Elisabeth JochmannJulian Grosskreutz
Apr 26, 2020·Journal of Neuromuscular Diseases·Crystal Jing Jing YeoKathryn J Swoboda
Jun 14, 2020·Orphanet Journal of Rare Diseases·Frédérique AudicIsabelle Desguerre
Sep 8, 2020·Neuromuscular Disorders : NMD·Giorgia CorattiUNKNOWN ISMAC group
Sep 10, 2020·Neuromuscular Disorders : NMD·Giorgia CorattiUNKNOWN ISMAC group and collaborators.

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cajal Bodies & Gems

Cajal bodies or coiled bodies are dense foci of coilin protein. Gemini of Cajal bodies, or gems, are microscopically similar to Cajal bodies. It is believed that Cajal bodies play important roles in RNA processing while gems assist the Cajal bodies. Find the latest research on Cajal bodies and gems here.

Related Papers

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
Damjan OsredkarJana Haberlova
Developmental Medicine and Child Neurology
Teresa Gidaro, Laurent Servais
The Annals of Pharmacotherapy
Melanie K ClabornBrooke L Gildon
© 2021 Meta ULC. All rights reserved