References
- Nestler-Parr S, Korchagina D, Toumi M, et al. Challenges in research and health technology assessment of rare disease technologies: report of the ISPOR rare disease special interest group. Value Health. 2018;21(5):493–500.
- Stoimenova A, Manova M, Savova A, et al. Reimbursed orphan medicines in bulgaria and the share of biotechnology-derived products. Biotechnol Biotechnol Equip. 2011;25(2): 2418–3.
- Szegedi M, Zelei T, Arickx F, et al. The European challenges of funding orphan medicinal products. Orphanet J Rare Dis. 2018;13(1):184.
- Malinowski KP, Kawalec P, Trąbka W, et al. Reimbursement legislations and decision making for orphan drugs in central and eastern european countries. Front Pharmacol. 2019;10:487.
- Institute for Clinical and Economic Review. Guide to understanding health technology assessment (HTA). 2018. [(access): Jun 2020]. Available from http://icer-review.org/wp-content/uploads/2018/08/ICER-Guide-to-Understanding-Health-Technology-Assessment-6.19.18.pdf
- Kamusheva M, Tachkov K, Petrova G, et al. Orphan medicinal products’ access to the Bulgarian pharmaceutical market – challenges and obstacles. Expert Opinion on Orphan Drugs. 2018;6(2):95–104.
- Drummond M. Challenges in the economic evaluation of orphan drugs. Eurohealth. 2008;14(2):16–17.
- Picavet E, Cassiman D, Simoens S. What is known about the cost-effectiveness of orphan drugs? Evidence from cost-utility analyses. J Clin Pharm Ther. 2015;40(3):304–307.
- Cohen JP, Felix A. Are payers treating orphan drugs differently? J Mark Access Health Policy. 2014;2. DOI:10.3402/jmahp.v2.23513.
- Iskrov G, Miteva-Katrandzhieva T, Stefanov R. Challenges to orphan drugs access in eastern Europe: the case of Bulgaria. Health Policy. 2012;108(1):10–18.
- Zlatareva A, Tachkov K, Stoicheva M, et al. Modelling the financial framework of the pharmacotherapy cost of rare diseases with orphan medicines—part II. Mod Econ. 2014;5(5):499–505.
- Hoy SM. Nusinersen: first global approval. Drugs. 2017;77(4):473–479.
- Tosolini AP, Sleigh JN. Motor neuron gene therapy: lessons from spinal muscular atrophy for amyotrophic lateral sclerosis. Front Mol Neurosci. 2017;10(405). DOI:10.3389/fnmol.2017.00405.
- Ogino S, Leonard DG, Rennert H, et al. Genetic risk assessment in carrier testing for spinal muscular atrophy. Am J Med Genet. 2002;110:301–307.
- Prior TW, Snyder PJ, Rink BD, et al. Newborn and carrier screening for spinal muscular atrophy. Am J Med Genet A. 2010;152A:1605–1607.
- Lally C, Jones C, Farwell W, et al. 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.
- Verhaart I, Robertson A, Wilson I, et al. Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review. Orphanet J Rare Dis. 2017;12(124). DOI:10.1186/s13023-017-0671-8
- Jones C, Oskoui M, Zielinski D, et al. PP09.1 – 2352: systematic review of incidence and prevalence of spinal muscular atrophy (SMA). Eur J Paediatr Neurol. 2015;19(1):S64–S65.
- Verhaart IEC, Robertson A, Leary R, et al. A multi-source approach to determine SMA incidence and research ready population. J Neurol. 2017;264(7):1465–1473.
- SMA Overview. Available from http://www.smafoundation.org/wp-content/uploads/2012/03/SMA-Overview.pdf[(cited): Apr 2019]
- National Institute for Health and Care Excellence. Consultation comments on the draft remit and draft scope for the technology appraisal of nusinersen for treating spinal muscular atrophy. [(cited): January 2018]. Available fromhttps://www.nice.org.uk/guidance/ta588/documents/scope-consultation-comments-and-responses
- Registers of Neuromuscular diseases. Bulgarian NMD society. [cited 2019 Apr 10. Available from http://www.nmd-bg.com/index.php?option=com_content&task=section&id=2&Itemid=9
- Darras BT. Spinal muscular atrophies. Pediatr Clin North Am. 2015 Jun;62(3):743–766.
- D’Amico A, Mercuri E. TF, Bertini E. Spinal muscular atrophy. Orphanet J Rare Dis. 2011;6:71.
- Viollet L, Melki J. Pediatric neurology part III. Handbook Clin Neurol. 2013;113:1395–1411.
- Praud JP, Kendig’s RG. Disorders of the Respiratory Tract in Children 9th ed. Elsevier. 2019;1044–61.e2. ISBN: 9780323448871
- Groen EJN, Talbot K, Gillingwater TH. Advances in therapy for spinal muscular atrophy: promises and challenges. Nat Rev Neurol. 2018;14(4):214–224.
- Diagnostic procedures and standards for care of SMA patients. Bulgarian NMD Society. [(cited): Apr 2019]. Available from http://www.nmd-bg.com/index.php?option=com_content&task=view&id=15&Itemid=11
- Qian Y, McGraw S, Henne J, et al. Understanding the experiences and needs of individuals with spinal muscular atrophy and their parents: a qualitative study. BMC Neurol BMC Neurol. 2015;15:217.
- von Gontard A, Rudnik-Schoneborn S, Zerres K. Stress and coping in parents of children and adolescents with spinal muscular atrophy. Klin Padiatr. 2012;224(4):247–251.
- Lloyd AJ, Thompson R, Gallop K, et al. Estimation of the quality of life benefits associated with treatment for spinal muscular atrophy. Clinicoecon Outcomes Res. 2019 Oct 25;11:615–622.
- Kocova H, Dvorackova O, Vondracek P, et al. Health-related quality of life in children and adolescents with spinal muscular atrophy in the Czech Republic. Pediatr Neurol. 2014;50(6):591–594.
- Landfeldt E, Edström J, Sejersen T, et al. Quality of life of patients with spinal muscular atrophy: a systematic review. Eur J Paediatr Neurol. 2019;23(3):347–356.
- Mercuri E, Finkel RS, Muntoni F, et al. Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28(2):103–115.
- Finkel RS, Mercuri E, Meyer OH, et al. Diagnosis and management of spinal muscular atrophy: part 2: pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord. 2018;28(3):197–207.
- Hamilton G, Gillingwater TH. Spinal muscular atrophy: going beyond the motor neuron. Trends Mol Med. 2013;19(1):40–50.
- Standard of care. Bulgarian NMD Society. [cited 2019 Apr 10. Available in Bulgarian language from: http://www.nmd-bg.com/index.php?option=com_content&task=view&id=15&Itemid=11
- National consensus for diagnosis, treatment and prophylaxis of hereditary neuromuscular disorders. [(cited): Apr 2019. Available in Bulgarian language from: http://www.nevrologiabg.com/wp-content/uploads/2013/04/consensusNMD19_new.pdf
- Summary of product characteristic. Spinraza. [(cited): Apr 2019]. Available from: https://www.ema.europa.eu/en
- European public assessment report for Zolgensma. [(cited): -Apr 2019]. Available from: https://www.ema.europa.eu/en/medicines/human/EPAR/zolgensma
- Bertini E, Hwu WL, Reyna SP, et al. Efficacy and safety of nusinersen in infants with presymptomatic spinal muscular atrophy (SMA): interim results from the NURTURE study. Eur J Paediatr Neurol. 2017;21(1):e14.
- SPINRAZA clinical trials. Clinical overview. [(cited): 2019 April]. Available from: https://www.spinraza-hcp.com/en_us/home/efficacy/clinical-trials.html.
- EMA. CHMP. Assessment report for paediatric studies submitted according to Article 46 of the Regulation (EC) No 1901/2006. [(cited): 2019 Apr]. Available from: https://www.ema.europa.eu/en/documents/variation-report/spinraza-h-c-004312-p46-007-epar-assessment-report_en.pdf
- Mercuri E, Darras B, Chiriboga C, et al. Nusinersen versus Sham control in later-onset spinal muscular atrophy. N Engl J Med. 2018;378:625–635. .
- An open-label safety and tolerability study of Nusinersen (ISIS 396443) in participants with spinal muscular atrophy (SMA) who previously participated in ISIS 396443-CS2 (NCT01703988) or ISIS 396443-CS10 (NCT01780246). NIH US National Library of Medicine. [cited 2019 Apr 18. Available from: https://clinicaltrials.gov/ct2/show/NCT02052791.
- Assessment Report, Spinraza. EMA. 2017. [cited: Apr 2019]. Available from: https://www.ema.europa.eu/en/documents/assessment-report/spinraza-epar-public-assessment-report_en-0.pdf
- Shieh PB, Acsadi G, Mueller-Felber W, et al. Safety and efficacy of nusinersen in infants/children with spinal muscular atrophy (SMA): part 1 of the phase 2 EMBRACE study. Can J Neurol Sci. 2018;45s2:p. S13.Accessed 2019 Apr 18; Available from https://www.cambridge.org/core/journals/canadian-journal-of-neurological-sciences/article/b06-safety-and-efficacy-of-nusinersen-in-infantschildren-with-spinal-muscular-atrophy-sma-part-1-of-the-phase-2-embrace-study/683B292E83F461940CBB4EC95BC110FE.
- 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.[cited 2019 Apr 18. Available from: http://indexsmart.mirasmart.com/AAN2019/PDFfiles/AAN2019-001869.pdf.
- Finkel R, Mercuri E, Darras B, et al. Nusinersen versus Sham control in infantile-onset spinal muscular atrophy. N Engl J Med. 2017;377:1723–1732.
- First medicine for spinal muscular atrophy. EMA, 2017. [(cited): Apr 2019]. Available from: www.ema.europa.eu/docs/en_GB/document_library/Press_release/2017/04/WC500226270.pdf.
- Rotar A, Preda A, Loblova O, et al. Rationalizing the introduction and use of pharmaceutical products: the role of managed entry agreements in Central and Eastern European countries. Health Policy. 2018;122:230–236.
- Mauskopf J. Prevalence-based economic evaluation. Value Health. 1998;1:251–259.
- Sullivan SD, Mauskopf JA, Augustovski F, et al. Budget impact analysis – principles of good practice: report of the ISPOR 2012 budget impact analysis good practice II task force. Value Health. 2014;17:5–14.
- National council on prices and reimbursement of medicinal products: ordinance for the conditions, rules and order for regulation and registration of the prices of the medicinal products in Bulgaria/In force 30.April.2013. [(cited): Apr 2019. Available from: https://ncpr.bg/images/Naredbi/2019/.
- National Council on prices and reimbursement of medicinal products: methodology guidance for health technology assessment. [(cited): Apr 2019]. Available from: https://ncpr.bg/images/ocenka_na_zdravnite_tehnologii/2019/12.04.2019.
- Simoens S, Huys I. Market access of Spinraza (Nusinersen) for spinal muscular atrophy: intellectual property rights, pricing, value and coverage considerations. Gene Ther. 2017;24:539–541.
- Onasemnogene MR. Abeparvovec for spinal muscular atrophy: the costlier drug ever. Int J Appl Basic Med Res. 2019;9(3):127–128.
- Claborn MK, Stevens DL, Walker CK, et al. Nusinersen: a treatment for spinal muscular atrophy. Ann Pharmacother. 2019;53(1):61–69.
- Szabó L, Gergely A, Jakus R, et al. Efficacy of nusinersen in type 1, 2 and 3 spinal muscular atrophy: real world data from Hungarian patients. Eur J Paediatr Neurol. 2020;S1090-3798(20): 30099–4.
- 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.
- 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.
- 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.
- 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.
- Picchi A. The cost of Biogen’s new drug: $750 000 per patient. CBS News. 2016 December.
- Droege M, Sproule D, Arjunji R, et al. Economic burden of spinal muscular atrophy in the United States: a contemporary assessment. J Med Econ. 2020;23(1):70–79.
- S Z-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.
- Boussahoua M, Godard C, Tehard B. Economic Evaluation of Nusinersen in spinal muscular atrophy- A Comparison of Nice and has Opinions. Copenhagen, Denmark: ISPOR Europe; 2019. p. 2019–11.
- D M, Ciafaloni E, Ashwal S, et al. Evidence in focus: Nusinersen use in spinal muscular atrophy: report of the guideline development, dissemination, and implementation subcommittee of the American academy of neurology. Neurology. 2018;91(20):923–933.
- Messina S. New directions for SMA therapy. J Clin Med. 2018;7:251.
- Ramdas S, Servais L. New treatments in spinal muscular atrophy: an overview of currently available data. Expert Opin Pharmacother. 2020;21(3):307–315.
- Dangouloff T, Servais L. Clinical evidence supporting early treatment of patients with spinal muscular atrophy: current perspectives. Ther Clin Risk Manag. 2019;15:1153–1161.
- Stevens D, Claborn MK, Gildon BL, et al. Onasemnogene Abeparvovec-xioi: gene therapy for spinal muscular atrophy. Ann Pharmacother. 2020. DOI:10.1177/1060028020914274.
- Hoy SM. Onasemnogene Abeparvovec: first global approval. Drugs. 2019;79(11):1255–1262.
- Kariyawasam D, Russell JS, Wiley V, et al. The implementation of newborn screening for spinal muscular atrophy: the Australian experience. Genet Med. 2020;22:557–565.
- 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.
- Phan HC, Taylor JL, Hannon H, et al. Newborn screening for spinal muscular atrophy: anticipating an imminent need. Semin Perinatol. 2015;39(3):217–229.
- IQWiG reports – commission No. S18-02 newborn screening for 5q-linked spinal muscular atrophy. Availble from: https://www.iqwig.de/en/projects-results/projects/non-drug-interventions/s-projekte/s18-02-newborn-screening-for-spinal-muscular-atrophy-sma.10782.html[(cited): June 2020]
- Dangouloff T, Burghes A, Tizzano EF, Servais L. NBS SMA study group. 244th ENMC international workshop: newborn screening in spinal muscular atrophy May 10-12, 2019, Hoofdorp, The Netherlands. Neuromuscul Disord. 2020;30(1):93–103.
- Vill K, Kölbel H, Schwartz O, et al. One year of newborn screening for SMA - results of a German pilot project. J Neuromuscul Dis. 2019;6(4):503–515.
- State of newborn screening for SMA report. cited: 2020 August 7. Available at: https://www.curesma.org/newborn-screening-for-sma/