Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives

References

• Kolb SJ, Kissel JT. Spinal muscular atrophy. Neurol Clin. 2015;33(4):831–46. doi:10.1016/j.ncl.2015.07.00426515624
   PubMed Web of Science ®Google Scholar
• Pearn J. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Medical Genet. 1978;15(6):409–413. doi:10.1136/jmg.15.6.409
   PubMed Web of Science ®Google Scholar
• Prior TW, Snyder PJ, Rink BD, et al. Newborn and carrier screening for spinal muscular atrophy. Am J Med Genet A. 2010;152a(7):1608–1616. doi:10.1002/ajmg.a.3347420578137
   PubMed Web of Science ®Google Scholar
• Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80(1):155–165. doi:10.1016/0092-8674(95)90460-37813012
   PubMed Web of Science ®Google Scholar
• Calucho M, Bernal S, Alias L, et al. Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases. Neuromuscul Disord. 2018;28(3):208–215. doi:10.1016/j.nmd.2018.01.00329433793
   PubMed Web of Science ®Google Scholar
• Wirth B, Garbes L, Riessland M. How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches. Curr Opin Genet Dev. 2013;23(3):330–338. doi:10.1016/j.gde.2013.03.00323602330
   PubMed Web of Science ®Google Scholar
• Klug C, Schreiber-Katz O, Thiele S, et al. Disease burden of spinal muscular atrophy in Germany. Orphanet J Rare Dis. 2016;11(1):58. doi:10.1186/s13023-016-0424-027145956
   PubMed Web of Science ®Google Scholar
• Chabanon A, Seferian AM, Daron A, et al. Prospective and longitudinal natural history study of patients with type 2 and 3 spinal muscular atrophy: baseline data NatHis-SMA study. PLoS One. 2018;13(7):e0201004. doi:10.1371/journal.pone.020100430048507
   PubMed Web of Science ®Google Scholar
• Mazzone E, Bianco F, Main M, et al. Six minute walk test in type III spinal muscular atrophy: a 12 month longitudinal study. Neuromuscul Disord. 2013;23(8):624–628. doi:10.1016/j.nmd.2013.06.00123809874
   PubMed Web of Science ®Google Scholar
• Daron A, Delstanche S, Dangouloff T, Servais L. [Infantile spinal muscular atrophy: therapeutic (R)evolution]. Rev Med Liege. 2019;74(2):82–85.30793560
   PubMedGoogle 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.194131020624852
   PubMed Web of Science ®Google Scholar
• Finkel RS, Mercuri E, Darras BT, et al. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J M. 2017;377(18):1723–1732. doi:10.1056/NEJMoa170275229091570
   PubMed Web of Science ®Google Scholar
• Mercuri E, Darras BT, Chiriboga CA, et al. Nusinersen versus sham control in later-onset spinal muscular atrophy. N Engl J M. 2018;378(7):625–635. doi:10.1056/NEJMoa171050429443664
   PubMed Web of Science ®Google Scholar
• Finkel RS, Chiriboga CA, Vajsar J, et al. Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study. Lancet. 2016;388(10063):3017–3026. doi:10.1016/S0140-6736(16)31408-827939059
   PubMed Web of Science ®Google Scholar
• Hache M, Swoboda KJ, Sethna N, et al. Intrathecal injections in children with spinal muscular atrophy: nusinersen clinical trial experience. J Child Neurol. 2016;31(7):899–906. doi:10.1177/088307381562788226823478
   PubMed Web of Science ®Google Scholar
• Chiriboga CA, Swoboda KJ, Darras BT, et al. Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy. Neurology. 2016;86(10):890–897. doi:10.1212/WNL.000000000000244526865511
   PubMed Web of Science ®Google Scholar
• Darras BT, Chiriboga CA, Iannaccone ST, et al. Nusinersen in later-onset spinal muscular atrophy: long-term results from the phase 1/2 studies. Neurology. 2019;92(21):e2492–e2506. doi:10.1212/WNL.000000000000752731019106
   PubMed Web of Science ®Google Scholar
• Pechmann A, Langer T, Schorling D, et al. Evaluation of children with SMA type 1 under treatment with nusinersen within the expanded access program in Germany. J Neuromuscul Dis. 2018;5(2):135–143. doi:10.3233/JND-18031529689734
   PubMedGoogle Scholar
• Pane M, Coratti G, Sansone VA, et al. Nusinersen in type 1 spinal muscular atrophy: 12-month real world data. Ann Neurol. 2019 Epub 2019 Jul 8. doi:10.1002/ana.25533
   PubMed Web of Science ®Google Scholar
• Aragon-Gawinska K, Seferian AM, Daron A, et al. Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: a cohort study. Neurology. 2018;91(14):e1312–e1318. doi:10.1212/WNL.000000000000577330158155
   PubMed Web of Science ®Google Scholar
• Mendell JR, Al-Zaidy S, Shell R, et al. Single-dose gene-replacement therapy for spinal muscular atrophy. N Engl J Med. 2017;377(18):1713–1722. doi:10.1056/NEJMoa170619829091557
   PubMed Web of Science ®Google Scholar
• Lowes L, Al-Zaidy S, Shell R, et al. AVXS-101 phase 1 gene therapy clinical trial in SMA type 1: patients treated early with the proposed therapeutic dose were able to sit unassisted at a younger age. Neuromuscul Disord. 2017;27:S208–S209. doi:10.1016/j.nmd.2017.06.414
   Web of Science ®Google Scholar
• Avexis. What is ZOLGENSMA? Published 2019 [Updated June, 2019] Available from: https://www.zolgensma.com/what-is-zolgensma. Accessed 726, 2019.
   Google Scholar
• Naryshkin NA, Weetall M, Dakka A, et al. Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy. Science (New York, NY). 2014;345(6197):688–693. doi:10.1126/science.1250127
   Google Scholar
• Sleigh JN, Gillingwater TH, Talbot K. The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy. Dis Model Mech. 2011;4(4):457. doi:10.1242/dmm.00724521708901
   PubMed Web of Science ®Google Scholar
• Lowes LP, Alfano LN, Arnold WD, et al. Impact of age and motor function in a phase 1/2A study of infants with SMA type 1 receiving single-dose gene replacement therapy. Pediatr Neurol. 2019 Epub 2019 May 13. doi:10.1016/j.pediatrneurol.2019.05.005
   PubMed Web of Science ®Google Scholar
• Aragon-Gawinska K, Daron A, Ulinici A, et al. Sitting in nusinersen-treated spinal muscular atrophy type 1 patients. Dev Med Child Neurol. In revision.
   Web of Science ®Google Scholar
• Finkel R, Castro D, Farrar M, et al. Interim report on the safety and efficacy of longer-term treatment with nusinersen in infantile-onset Spinal Muscular Atrophy (SMA): updated results from the SHINE study. Communication presented at American Academy of Neurology 2019 – 71st Annual Meeting; May 4-10, 2019; Philadelphia, PA, USA.
   Google Scholar
• Darras B, Farrar M, Mercuri E, et al. Interim report on the safety and efficacy of longer-term treatment with nusinersen in later-onset Spinal Muscular Atrophy (SMA): results from the SHINE study. Communication presented at American Academy of Neurology 2019-71st Annual Meeting; May 4-10, 2019; Philadelphia, PA, USA.
   Google Scholar
• De Vivo DC, Topaloglu H, Swoboda KJ, et al. Nusinersen in infants who initiate treatment in a presymptomatic stage of Spinal Muscular Atrophy (SMA): interim efficacy and safety results from the phase 2 NURTURE study (S25.001). Communication presented at American Academy of Neurology 2019-71st Annual Meeting; May 4-10, 2019; Philadelphia, PA, USA.
   Google Scholar
• Gidaro T, Servais L. Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps. Dev Med Child Neurol. 2019;61(1):19–24. doi:10.1111/dmcn.1402730221755
   PubMed Web of Science ®Google Scholar
• Mendell J, Lehman K, McColly M, et al. AVXS-101 Gene-Replacement Therapy (GRT) in Spinal Muscular Atrophy type 1 (SMA1): long-term follow-up from the phase 1 clinical trial (S25.006). Communication presented at American Academy of Neurology 2019-71st Annual Meeting; May 4-10, 2019; Philadelphia, PA, USA. doi:10.1017/cjn.2019.166
   Google Scholar
• Strauss KA, Swoboda KJ, Farrar M, et al. AVXS-101 gene-replacement therapy in presymptomatic spinal muscular atrophy: SPR1NT study update. Communication presented at American Academy of Neurology 2019-71st Annual Meeting; May 4-10, 2019; Philadelphia, PA, USA.
   Google Scholar
• Seabrook T, Baranello G, Servais L, et al. FIREFISH part 1: early clinical results following an increase ofSMN protein in infants with type 1 spinal muscular atrophy (SMA) treated with risdiplam (RG7916). Communication presented at MDA Clinical & Scientific Conference; April 13-17, 2019; Orlando, Florida.
   Google Scholar
• Mercuri E, Baranello G, Kirschner J, et al. Update from SUNFISH part 1: safety, tolerability and PK/PD from the dose-finding study, including exploratory efficacy data, in patients with type 2 or 3 spinal muscular atrophy (SMA) treated with risdiplam (RG7916). Communication presented at American Academy of Neurology 2019-71st Annual Meeting; May 4-10, 2019 Philadelphia, PA, USA.
   Google Scholar
• Jevtic S, Carr D, Dobrzycka-Ambrozevicz A, et al. Branaplam in type 1 spinal muscular atrophy: second part of a phase I/II study. Communication presented at 23rd SMA researcher meeting, Cure SMA; June 28-30, 2019; Disneyland hotel in Anaheim, California.
   Google Scholar
• CADTH Common Drug Reviews. Pharmacoeconomic Review Report: Nusinersen (spinraza): (biogen Canada Inc.): Indication: Treatment of Patients with 5q SMA. Ottawa (ON): Canadian Agency for Drugs and Technologies in Health; 2018.
   Google Scholar
• Relations NM AveXis Announces Innovative Zolgensma® Gene Therapy Access Programs for US Payers and Families. Published 2019, May 24 Available from: https://www.novartis.com/news/media-releases/avexis-announces-innovative-zolgensma-gene-therapy-access-programs-us-payers-and-families. Accessed 726, 2019.
   Google Scholar
• Zuluaga-Sanchez S, Teynor M, Knight C, et al. Cost effectiveness of nusinersen in the treatment of patients with infantile-onset and later-onset spinal muscular atrophy in Sweden. PharmacoEconomics. 2019;37(6):845–865. doi:10.1007/s40273-019-00769-630714083
   PubMed Web of Science ®Google Scholar
• Ali I, Gilchrist F, Carroll WD, et al. G176(P) healthcare utilisation in SMA type 1 patients treated with nusinersen. Arch Disease Child. 2019;104(Suppl 2):A71.
   Google Scholar
• Lin CW, Kalb SJ, Yeh WS. Delay in diagnosis of spinal muscular atrophy: a systematic literature review. Pediatr Neurol. 2015;53(4):293–300. doi:10.1016/j.pediatrneurol.2015.06.00226260993
   PubMed Web of Science ®Google Scholar
• Chien YH, Chiang SC, Weng WC, et al. Presymptomatic diagnosis of spinal muscular atrophy through newborn screening. J Pediatr. 2017;190:124–129.e121. doi:10.1016/j.jpeds.2017.06.04228711173
   PubMed Web of Science ®Google Scholar
• Kraszewski JN, Kay DM, Stevens CF, et al. Pilot study of population-based newborn screening for spinal muscular atrophy in New York state. Genet Med. 2018;20(6):608–613. doi:10.1038/gim.2017.15229758563
   PubMed Web of Science ®Google Scholar
• Boemer F, Caberg JH, Dideberg V, et al. Newborn screening for SMA in Southern Belgium. Neuromuscul Disord. 2019;29(5):343–349. doi:10.1016/j.nmd.2019.02.00331030938
   PubMed Web of Science ®Google Scholar
• Boemer F, Caberg J, Dideberg V, et al. (S)un (M)ay (A)rise on SMA: l’espoir d’une région sans amyotrophie spinale [(S)un (M)ay (A)rise on SMA: the hope of a region without spinal muscular atrophy]. Rev Med Liege. 2019;74(9):461–464. In Press.31486315
   PubMedGoogle Scholar
• Dangouloff T, Burghes A, Bertini E, et al. 244th ENMC international workshop: newborn screening in spinal muscular atrophy,10th-12th May 2019, Hoofdorp, The Netherlands. Neuromuscul Disord. Submitted.
   Google Scholar