Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study

Neurology
Karolina Aragon-GawinskaLaurent Servais

Abstract

To evaluate the safety and clinical efficacy of nusinersen in patients older than 7 months with spinal muscular atrophy type 1 (SMA1). Patients with SMA1 were treated with nusinersen by intrathecal injections as a part of the Expanded Access Program (EAP; NCT02865109). We evaluated patients before treatment initiation (M0) and at 2 months (M2) and 6 months (M6) after treatment initiation. Survival, respiratory, and nutritional data were collected. Motor function was assessed with the modified Hammersmith Infant Neurologic Examination Part 2 (HINE-2) and physiotherapist scales adjusted to patient age (Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders and the Motor Function Measure 20 or 32). We treated 33 children ranging in age from 8.3 to 113.1 months between December 2016 and May 2017. All patients were alive and were continuing treatment at M6. Median progress on the modified HINE-2 score was 1.5 points after 6 months of treatment (p < 0.001). The need for respiratory support significantly increased over time. There were no statistically significant differences between patients presenting with 2 and those presenting with 3 copies of the survival motor neuron 2 (SMN2) gene. Our results are in line wit...Continue Reading

References

Nov 14, 2007·Neurology·M OskouiP Kaufmann
Oct 31, 2015·Neurologic Clinics·Stephen J Kolb, John T Kissel
Oct 30, 2016·Neuromuscular Disorders : NMD·Roberto De SanctisEugenio Mercuri
Nov 2, 2017·The New England Journal of Medicine·Richard S FinkelUNKNOWN ENDEAR Study Group
Nov 18, 2017·Annals of Neurology·Stephen J KolbUNKNOWN NeuroNEXT Clinical Trial Network on behalf of the NN101 SMA Biomarker Investigators
Feb 15, 2018·The New England Journal of Medicine·Eugenio MercuriUNKNOWN CHERISH Study Group
Mar 20, 2018·Journal of Neurology, Neurosurgery, and Psychiatry·Michelle A FarrarMonique M Ryan
Apr 25, 2018·Journal of Neuromuscular Diseases·Astrid PechmannJanbernd Kirschner

❮ Previous
Next ❯

Citations

Sep 18, 2018·Developmental Medicine and Child Neurology·Teresa Gidaro, Laurent Servais
Jun 22, 2019·Expert Review of Clinical Pharmacology·Federica RicciTiziana Mongini
Nov 30, 2019·Journal of Neurology·Claudia BrognaEugenio Mercuri
Jan 25, 2020·Expert Opinion on Pharmacotherapy·Sithara Ramdas, Laurent Servais
Nov 11, 2019·Journal of Neuromuscular Diseases·David Christof SchorlingJanbernd Kirschner
Dec 5, 2019·Developmental Medicine and Child Neurology·Karolina Aragon-GawinskaUNKNOWN SMA-Registry Study Group
Sep 7, 2019·Neurology·John F Brandsema, Charlotte J Sumner
Jul 9, 2020·Medicinal Research Reviews·Maria Zakharova
Jun 23, 2019·Annals of Neurology·Marika PaneUNKNOWN Italian Expanded Access Program Working Group
Apr 7, 2020·Orphanet Journal of Rare Diseases·Eugenio MercuriRichard S Finkel
Jan 19, 2019·Annals of Clinical and Translational Neurology·Afshin SaffariAndreas Ziegler
Apr 10, 2019·Developmental Medicine and Child Neurology·Laurent Servais
Nov 21, 2019·Journal of Neuromuscular Diseases·Astrid PechmannJanbernd Kirschner
Jun 14, 2020·Orphanet Journal of Rare Diseases·Frédérique AudicIsabelle Desguerre
Apr 26, 2020·Journal of Neuromuscular Diseases·A M B van der HeulL van den Engel-Hoek
Jul 17, 2020·Journal of Clinical Medicine·Sonia Messina, Maria Sframeli
Apr 20, 2020·Advances in Therapy·Moran LavieIsrael Amirav
Aug 23, 2019·American Journal of Respiratory and Critical Care Medicine·Antonella LoMauroGiovanni Baranello
Oct 25, 2020·Pediatric Pulmonology·Grace R PaulRichard Shell
Nov 5, 2020·Annals of Clinical and Translational Neurology·Eloisa TiberiEugenio Mercuri
Oct 30, 2020·Pediatric Pulmonology·Marta Gómez-García de la BandaBrigitte Fauroux
Jan 25, 2021·Orphanet Journal of Rare Diseases·Tamara DangouloffMickaël Hiligsmann
Dec 29, 2019·Neuromuscular Disorders : NMD·Tamara DangouloffUNKNOWN NBS SMA Study Group
Feb 7, 2021·Annals of Clinical and Translational Neurology·Marika PaneUNKNOWN Italian EAP Working Group
Feb 13, 2021·Orphanet Journal of Rare Diseases·Caterina AgostoFranca Benini
Jan 19, 2021·Journal of Neuromuscular Diseases·Rodrigo de Holanda MendonçaEdmar Zanoteli
Feb 23, 2021·Annals of Clinical and Translational Neurology·Jiwon LeeJeehun Lee
Mar 23, 2021·Expert Opinion on Investigational Drugs·Laurent ServaisMaryam Oskoui
Jul 25, 2020·Neurologic Clinics·Megan A Waldrop, Bakri H Elsheikh
Apr 2, 2021·Clinical Pharmacology and Therapeutics·Giovanni BaranelloLaurent Servais
Jun 9, 2021·Neuromuscular Disorders : NMD·Giorgia CorattiUNKNOWN iSMAC group
Jun 25, 2021·Annals of Clinical and Translational Neurology·Maria Carmela PeraUNKNOWN iSMAC group
Aug 28, 2021·International Journal of Molecular Sciences·Mar Costa-RogerEduardo F Tizzano
Oct 15, 2021·Orphanet Journal of Rare Diseases·Giorgia CorattiEugenio Mercuri

❮ 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.