Safety and effectiveness of nusinersen, a treatment for spinal muscular atrophy, in 524 patients: results from an interim analysis of post-marketing surveillance in Japan

References

• Lunn MR, Wang CH. Spinal muscular atrophy. Lancet. 2008;371(9630):2120–2133. doi: 10.1016/S0140-6736(08)60921-6.
   PubMed Web of Science ®Google Scholar
• Cho S, Dreyfuss G. A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity. Genes Dev. 2010;24(5):438–442. doi: 10.1101/gad.1884910.
   PubMed Web of Science ®Google Scholar
• Hua Y, Sahashi K, Hung G, et al. Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model. Genes Dev. 2010;24(15):1634–1644. doi: 10.1101/gad.1941310.
   PubMed Web of Science ®Google Scholar
• Finkel RS, Mercuri E, Darras BT, ENDEAR Study Group, et al. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med. 2017;377(18):1723–1732. doi: 10.1056/NEJMoa1702752.
   PubMed Web of Science ®Google Scholar
• Mercuri E, Darras BT, Chiriboga CA, CHERISH Study Group, et al. Nusinersen versus sham control in later-onset spinal muscular atrophy. N Engl J Med. 2018;378(7):625–635. doi: 10.1056/NEJMoa1710504.
   PubMed Web of Science ®Google Scholar
• Sansone VA, Pirola A, Albamonte E, et al. Respiratory needs in patients with type 1 spinal muscular atrophy treated with nusinersen. J Pediatr. 2020;219:223–228.e224. doi: 10.1016/j.jpeds.2019.12.047.
   PubMed Web of Science ®Google Scholar
• Pane M, Coratti G, Sansone VA, Italian EAP Working Group, et al. Type I SMA “new natural history”: long-term data in nusinersen-treated patients. Ann Clin Transl Neurol. 2021;8(3):548–557. doi: 10.1002/acn3.51276.
   PubMed Web of Science ®Google Scholar
• Pane M, Coratti G, Pera MC, Italian ISMAC group, et al. Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy. Ann Clin Transl Neurol. 2022;9(3):404–409. doi: 10.1002/acn3.51514.
   PubMed Web of Science ®Google Scholar
• Maggi L, Bello L, Bonanno S, et al. Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3. J Neurol Neurosurg Psychiatry. 2020;91(11):1166–1174. doi: 10.1136/jnnp-2020-323822.
   PubMed Web of Science ®Google Scholar
• Coratti G, Cutrona C, Pera MC, et al. Motor function in type 2 and 3 SMA patients treated with nusinersen: a critical review and meta-analysis. Orphanet J Rare Dis. 2021;16(1):430. doi: 10.1186/s13023-021-02065-z.
   PubMed Web of Science ®Google Scholar
• Hagenacker T, Wurster CD, Günther R, et al. Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study. Lancet Neurol. 2020;19(4):317–325. doi: 10.1016/S1474-4422(20)30037-5.
   PubMed Web of Science ®Google Scholar
• Fainmesser Y, Drory VE, Ben-Shushan S, et al. Longer-term follow-up of nusinersen efficacy and safety in adult patients with spinal muscular atrophy types 2 and 3. Neuromuscul Disord. 2022;32(6):451–459. doi: 10.1016/j.nmd.2022.04.003.
   PubMed Web of Science ®Google Scholar
• De Vivo DC, Bertini E, Swoboda KJ, NURTURE Study Group, et al. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: interim efficacy and safety results from the phase 2 NURTURE study. Neuromuscul Disord. 2019;29(11):842–856. doi: 10.1016/j.nmd.2019.09.007.
   PubMed Web of Science ®Google Scholar
• Wataya T, Takasaki S, Hoshino M, et al. Real-world safety of nusinersen in Japan: results from an interim analysis of a post-marketing surveillance and safety database. Int J Neurosci. 2023;133(8):851–863. doi: 10.1080/00207454.2021.1995382.
   PubMed Web of Science ®Google Scholar
• Tachibana Y, Takasaki S, Hoshino M, et al. Real-world safety and effectiveness of nusinersen, a treatment for spinal muscular atrophy, in 401 Japanese patients: results from an interim analysis of post-marketing surveillance. Int J Neurosci. 2022:1–10. Online ahead of print. doi: 10.1080/00207454.2022.2095270.
   PubMed Web of Science ®Google Scholar
• Haataja L, Mercuri E, Regev R, et al. Optimality score for the neurologic examination of the infant at 12 and 18 months of age. J Pediatr. 1999;135(2 Pt 1):153–161. doi: 10.1016/s0022-3476(99)70016-8.
   PubMed Web of Science ®Google Scholar
• Bishop KM, Montes J, Finkel RS. Motor milestone assessment of infants with spinal muscular atrophy using the hammersmith infant neurological exam-part 2: experience from a nusinersen clinical study. Muscle Nerve. 2018;57(1):142–146. doi: 10.1002/mus.25705.
   PubMed Web of Science ®Google Scholar
• Glanzman AM, O’Hagen JM, McDermott MP, et al. Pediatric neuromuscular clinical research network for spinal muscular atrophy (PNCR); muscle study group (MSG). validation of the expanded hammersmith functional motor scale in spinal muscular atrophy type II and III. J Child Neurol. 2011;26(12):1499–1507. doi: 10.1177/0883073811420294.
   PubMed Web of Science ®Google Scholar
• Swoboda KJ, Scott CB, Crawford TO, Project Cure Spinal Muscular Atrophy Investigators Network, et al. SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy. PLOS One. 2010;5(8):e12140. doi: 10.1371/journal.pone.0012140.
   PubMed Web of Science ®Google Scholar
• Darras BT, Farrar MA, Mercuri E, et al. An integrated safety analysis of infants and children with symptomatic spinal muscular atrophy (SMA) treated with nusinersen in seven clinical trials. CNS Drugs. 2019;33(9):919–932. doi: 10.1007/s40263-019-00656-w.
   PubMed Web of Science ®Google Scholar
• Chrysant SG. Proactive compared with passive adverse event recognition: calcium channel blocker-associated edema. J Clin Hypertens (Greenwich). 2008;10(9):716–722. doi: 10.1111/j.1751-7176.2008.00006.x.
   PubMed Web of Science ®Google Scholar
• Tanihara H, Kakuda T, Sano T, et al. Safety and efficacy of ripasudil in Japanese patients with glaucoma or ocular hypertension: 12-month interim analysis of ROCK-J, a post-marketing surveillance study. BMC Ophthalmol. 2020;20(1):275. doi: 10.1186/s12886-020-01490-1.
   PubMed Web of Science ®Google Scholar
• Coratti G, Pera MC, Montes J, et al. Different trajectories in upper limb and gross motor function in spinal muscular atrophy. Muscle Nerve. 2021;64(5):552–559. doi: 10.1002/mus.27384.
   PubMed Web of Science ®Google Scholar
• Wadman RI, Wijngaarde CA, Stam M, et al. Muscle strength and motor function throughout life in a cross-sectional cohort of 180 patients with spinal muscular atrophy types 1c-4. Eur J Neurol. 2018;25(3):512–518. doi: 10.1111/ene.13534.
   PubMed Web of Science ®Google Scholar
• Iwayama H, Kawahara K, Takagi M, et al. Long-term efficacy of nusinersen and its evaluation in adolescent and adult patients with spinal muscular atrophy types 1 and 2. Brain Dev. 2023;45(2):110–116. doi: 10.1016/j.braindev.2022.10.006.
   PubMed Web of Science ®Google Scholar
• Montes J, McDermott MP, Mirek E, et al. Ambulatory function in spinal muscular atrophy: age-related patterns of progression. PLOS One. 2018;13(6):e0199657. doi: 10.1371/journal.pone.0199657.
   PubMed Web of Science ®Google Scholar
• Mendonça RH, Polido GJ, Matsui C, et al. Real-world data from nusinersen treatment for patients with later-onset spinal muscular atrophy: a single center experience. J Neuromuscul Dis. 2021;8(1):101–108. doi: 10.3233/JND-200551.
   PubMedGoogle Scholar
• Dangouloff T, Vrščaj E, Servais L, SMA NBS World Study Group, et al. Newborn screening programs for spinal muscular atrophy worldwide: where we stand and where to go. Neuromuscul Disord. 2021;31(6):574–582. doi: 10.1016/j.nmd.2021.03.007.
   PubMed Web of Science ®Google Scholar
• Sawada T, Kido J, Sugawara K, et al. Newborn screening for spinal muscular atrophy in Japan: one year of experience. Mol Genet Metab Rep. 2022;32:100908. doi: 10.1016/j.ymgmr.2022.100908.
   PubMed Web of Science ®Google Scholar
• Noguchi Y, Bo R, Nishio H, et al. PCR-based screening of spinal muscular atrophy for newborn infants in Hyogo prefecture, Japan. Genes (Basel). 2022;13(11):2110. doi: 10.3390/genes13112110.
   PubMed Web of Science ®Google Scholar
• Feldkötter M, Schwarzer V, Wirth R, et al. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular _atrophy. Am J Hum Genet. 2002;70(2):358–368. doi: 10.1086/338627.
   PubMed Web of Science ®Google Scholar
• Slayter J, Casey L, O’Connell C. Patient reported outcome measures in adult spinal muscular atrophy: a scoping review and graphical visualization of the evidence. J Neuromuscul Dis. 2023;10(2):239–250. doi: 10.3233/JND-221595.
   PubMedGoogle Scholar
• Sahashi K, Hashizume A, Kuwatsuka Y, et al. The Japan registry for adult subjects of spinal muscular atrophy (jREACT-SMA): protocol for a longitudinal observational study. JMIR Res Protoc. 2022;11(12):e38878. doi: 10.2196/38878.
   PubMed Web of Science ®Google Scholar