Estimation Of The Quality Of Life Benefits Associated With Treatment For Spinal Muscular Atrophy

References

• Lally C, Jones C, Farwell W, Reyna SP, Cook SF, Flanders WD. Indirect estimation of the prevalence of spinal muscular atrophy Type I, II, and III in the United States. Orphanet J Rare Dis. 2017;12(1):175. doi:10.1186/s13023-017-0724-z29183396
   PubMedGoogle Scholar
• Zerres K, Rudnik-Schöneborn S. Natural history in proximal spinal muscular atrophy: clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol. 1995;52(5):518–523. doi:10.1001/archneur.1995.005402901080257733848
   PubMedGoogle Scholar
• D’Amico A, Mercuri E, Tiziano FD, Bertini E. Spinal muscular atrophy. Orphanet J Rare Dis. 2011;6(1):71. doi:10.1186/1750-1172-6-4822047105
   PubMedGoogle Scholar
• Ogino S, Leonard DG, Rennert H, Ewens WJ, Wilson RB. Genetic risk assessment in carrier testing for spinal muscular atrophy. Am J Med Genet A. 2002;110(4):301–307. doi:10.1002/ajmg.10425
   PubMed Web of Science ®Google Scholar
• Verhaart IE, Robertson A, Wilson IJ, et al. Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review. Orphanet J Rare Dis. 2017;12(1):124. doi:10.1186/s13023-017-0671-828676062
   PubMedGoogle Scholar
• Wang CH, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027–1049. doi:10.1177/088307380730578817761659
   PubMed Web of Science ®Google Scholar
• Finkel RS, Mercuri E, Darras BT, et al. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. New Engl J Med. 2017;377(18):1723–1732. doi:10.1056/NEJMoa170275229091570
   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
• Mercuri E, Finkel R, Kirschner J, et al. Efficacy and safety of nusinersen in children with later-onset spinal muscular atrophy (SMA): end of study results from the phase 3 CHERISH study. Neuromuscul Disord. 2017;27:S210.
   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 Med. 2018;378(7):625–635. doi:10.1056/NEJMoa171050429443664
   PubMed Web of Science ®Google Scholar
• Darryl C, Hwu WL, Reyna SP, et al. Interim efficacy and safety results from the phase 2 NURTURE study evaluating nusinersen in presymptomatic infants with spinal muscular atrophy (S46. 003). Neurology. 2017;88(16 Supplement):S46–003.
   Google Scholar
• Pane M, Palermo C, Messina S, et al. Nusinersen in type 1 SMA infants, children and young adults: preliminary results on motor function. Neuromuscul Disord. 2018;28(7):582–585. doi:10.1016/j.nmd.2018.05.01029960818
   PubMed Web of Science ®Google Scholar
• Drummond MF, Sculpher MJ, Claxton K, Stoddart GL, Torrance GW. Methods for the Economic Evaluation of Health Care Programmes. Oxford university press; 2015.
   Google Scholar
• Dolan P. Modeling valuations for EuroQol health states. Med Care. 1997;35(11):1095–1108. doi:10.1097/00005650-199711000-000029366889
   PubMed Web of Science ®Google Scholar
• Herdman M, Gudex C, Lloyd A, et al. Development and preliminary testing of the new five-level version of EQ-5D (EQ-5D-5L). Qual Life Res. 2011;20(10):1727–1736. doi:10.1007/s11136-011-9903-x21479777
   PubMed Web of Science ®Google Scholar
• Brazier J, Ara R, Rowen D, Chevrou-Severac H. A review of generic preference-based measures for use in cost-effectiveness models. PharmacoEconomics. 2017;35(1):21–31. doi:10.1007/s40273-017-0545-x29052157
   PubMedGoogle Scholar
• López-Bastida J, Peña-Longobardo LM, Aranda-Reneo I, Tizzano E, Sefton M, Oliva-Moreno J. Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain. Orphanet J Rare Dis. 2017;12(1):141. doi:10.1186/s13023-017-0695-028821278
   PubMedGoogle Scholar
• National Institute for Health and Care Excellence (NICE). Guide to the Methods of Technology Appraisal. National Institute for Health and Care Excellence; 2013.
   Google Scholar
• Gosling JP. Methods for Eliciting Expert Opinion to Inform Health Technology Assessment. Vignette Commissioned by the MRC Methodology Advisory Group. Medical Research Council (MRC) and National Institure for Health Research (NIHR); 2014.
   Google Scholar
• National Institute for Health and Care Excellence (NICE). Burosumab for Treating X-Linked Hypophosphataemia in Children and Young People. National Institute for Health and Care Excellence; 2018.
   Google Scholar
• National Institute for Health and Care Excellence (NICE). Asfotase Alfa for Treating Paediatric-Onset Hypophosphatasia. National Institute for Health and Care Excellence; 2017.
   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. Pharmaco Economics. 2019;(2019:1–21.
   Google Scholar
• O’Hagen JM, Glanzman AM, McDermott MP, et al. An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients. Neuromuscul Disord. 2007;17(9–10):693–697. doi:10.1016/j.nmd.2007.05.00917658255
   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
• Bach JR, Vega J, Majors J, Friedman A. Spinal muscular atrophy type 1 quality of life. Am J Phys Med Rehabil. 2003;82(2):137–142. doi:10.1097/00002060-200302000-0000912544760
   PubMedGoogle Scholar
• De Sanctis R, Coratti G, Pasternak A, et al. Developmental milestones in type I spinal muscular atrophy. Neuromuscul Disord. 2016;26(11):754–759. doi:10.1016/j.nmd.2016.10.00227769560
   PubMed Web of Science ®Google Scholar
• Kaufmann P, McDermott MP, Darras BT, et al. Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year. Arch Neurol. 2011;68(6):779–786. doi:10.1001/archneurol.2010.37321320981
   PubMedGoogle Scholar
• Finkel RS, McDermott MP, Kaufmann P, et al. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology. 2014;83:10–212.
   Web of Science ®Google Scholar
• Qian Y, McGraw S, Henne J, Jarecki J, Hobby K, Yeh WS. Understanding the experiences and needs of individuals with spinal muscular atrophy and their parents: a qualitative study. BMC Neurol. 2015;15(1):217. doi:10.1186/s12883-015-0473-326499462
   PubMedGoogle Scholar
• Montes J, Gordon AM, Pandya S, De Vivo DC, Kaufmann P. Clinical outcome measures in spinal muscular atrophy. J Child Neurol. 2009;24(8):968–978. doi:10.1177/088307380933270219509409
   PubMedGoogle Scholar
• Wille N, Badia X, Bonsel G, et al. Development of the EQ-5D-Y: a child-friendly version of the EQ-5D. Qual Life Res. 2010;19(6):875–886. doi:10.1007/s11136-010-9648-y20405245
   PubMed Web of Science ®Google Scholar
• Iannaccone ST, Hynan LS, Morton A, Buchanan R, Limbers CA, Varni JW. The PedsQL™ in pediatric patients with spinal muscular atrophy: feasibility, reliability, and validity of the pediatric quality of life inventory™ generic core scales and neuromuscular module. Neuromuscul Disord. 2009;19(12):805–812. doi:10.1016/j.nmd.2009.09.00919846309
   PubMedGoogle Scholar
• Janse AJ, Sinnema G, Uiterwaal CS, Kimpen JL, Gemke RJ. Quality of life in chronic illness: perceptions of parents and paediatricians. Arch Dis Child. 2005;90(5):486–491. doi:10.1136/adc.2004.05172215851430
   PubMed Web of Science ®Google Scholar
• Janse AJ, Gemke RJ, Uiterwaal CS, Van Der Tweel I, Kimpen JL, Sinnema G. Quality of life: patients and doctors don’t always agree: a meta-analysis. J Clin Epidemiol. 2004;57(7):653–661. doi:10.1016/j.jclinepi.2003.11.01315358393
   PubMed Web of Science ®Google Scholar