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ИНТЕРНЕТ-МАГАЗИН
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Нервные болезни
2023 / N 1
Эффективность и безопасность нусинерсена при спинальной мышечной атрофии у взрослых
С.А. Клюшников, С.Н. Иллариошкин
Список литературы
1. Vill K, Kölbel H, Schwartz O, Blaschek A, Olgemöller B, Harms E, Burggraf S, Röschinger W, Durner J, Gläser D, Nennstiel U, Wirth B, Schara U, Jensen B, Becker M, Hohenfellner K, Müller-Felber W. One year of newborn screening for SMA – results of a German pilot project. Journal of Neuromuscular Diseases 2019;6(4):503-15.
2. Neuromuscular disorders of infancy, childhood, and adolescence: a clinician approach. Darras BT, Jones HR Jr, Ryan MM, De Vivo DC, editors. San Diego: Academic Press; 2014. 1160 p.
3. Ogino S, Leonard DG, Rennert H, Ewens WJ, Wilson RB. Genetic risk assessment in carrier testing for spinal muscular atrophy. American Journal of Medical Genetics 2002 Jul;110(4):301-7.
4. Prior TW, Snyder PJ, Rink BD, Pearl DK, Pyatt RE, Mihal DC, Conlan T, Schmalz B, Montgomery L, Ziegler K, Noonan C, Hashimoto S, Garner S. Newborn and carrier screening for spinal muscular atrophy. American Journal of Medical Genetics. Part A 2010 Jul;152A(7):1608-16.
5. Zabnenkova VV, Dadali EL, Spiridonova MG, Zinchenko R, Polyakov AV. Spinal muscular atrophy carrier frequency in Russian Federation. In: Proceedings of American Society of Human Genetics (ASHG) 2016 Annual Meeting: 2476W.
6. Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, Le Paslier D, Frezal J, Cohen D, Weissenbach J, Munnich A, Melki J. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995 Jan;80(1):155-65.
7. Lefebvre S, Burlet P, Liu Q, Bertrandy S, Clermont O, Munnich A, Dreyfuss G, Melki J. Correlation between severity and SMN protein level in spinal muscular atrophy. Nature Genetics 1997 Jul;16(3):265-9.
8. Tizzano E, Bastús M. Molecular bases of spinal muscular atrophy: the survival motor neuron gene. Contributions to Science 2001;2:35-42.
9. Bürglen L, Lefebvre S, Clermont O, Burlet P, Viollet L, Cruaud C, Munnich A, Melki J. Structure and organization of the human survival motor neuron (SMN) gene. Genomics 1996 Mar;32(3):479-82.
10. Lorson CL, Hahnen E, Androphy EJ, Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proceedings of the National Academy of Sciences of the USA 1999 May;96(11):6307-11.
11. Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T; SMA Care Group. Diagnosis and management of spinal muscular atrophy: Part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscular Disorders 2018 Feb;28(2):103-15.
12. Feldkötter M, Schwarzer V, Wirth R, Wienker TF, Wirth B. 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. American Journal of Human Genetics 2002 Feb;70(2):358-68.
13. Prior TW. Spinal muscular atrophy: a time for screening. Current Opinion in Pediatrics 2010 Dec;22(6):696-702.
14. Faravelli I, Nizzardo M, Comi GP, Corti S. Spinal muscular atrophy – recent therapeutic advances for an old challenge. Nature Reviews. Neurology 2015 Jun;11(6):351-9.
15. Farrar MA, Park SB, Vucic S, Carey KA, Turner BJ, Gillingwater TH, Swoboda KJ, Kiernan MC. Emerging therapies and challenges in spinal muscular atrophy. Annals of Neurology 2017 Mar;81(3):355-68.
16. Министерство здравоохранения РФ; Ассоциация медицинских генетиков; Российская ассоциация педиатрических центров; Всероссийское общество неврологов; Ассоциация профессиональных участников хосписной помощи. Клинические рекомендации. Проксимальная спинальная мышечная атрофия 5q. Нервно-мышечные болезни 2020;10(4):53-104.
17. Yang L, Cao YY, Qu YJ, Bai JL, Wang H, Jin YW, Han YL, Song F. [Sanger sequencing for the diagnosis of spinal muscular atrophy patients with survival motor neuron gene 1 compound heterozygous mutation.] Zhonghua Yi Xue Za Zhi 2017 Feb;97(6):418-23.
18. Министерство здравоохранения РФ. Инструкция по медицинскому применению лекарственного препарата Спинраза. Доступно по: https://f-sma.ru/wp-content/uploads/2021/05/spinraza2022.pdf Ссылка активна на 16.03.2023.
19. Hua Y, Sahashi K, Hung G, Rigo F, Passini MA, Bennett CF, Krainer AR. Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model. Genes & Development 2010 Aug;24(15):1634-44.
20. Passini MA, Bu J, Richards AM, Kinnecom C, Sardi SP, Stanek LM, Hua Y, Rigo F, Matson J, Hung G, Kaye EM, Shihabuddin LS, Krainer AR, Bennett CF, Cheng SH. Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy. Science Translational Medicine 2011 Mar;3(72):72ra18.
21. Khorkova O, Wahlestedt C. Oligonucleotide therapies for disorders of the nervous system. Nature Biotechnology 2017 Mar;35(3):249-63.
22. Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. The New England Journal of Medicine 2017 Nov;377(18):1723-32.
23. Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS; CHERISH Study Group. Nusinersen versus sham control in later-onset spinal muscular atrophy. The New England Journal of Medicine 2018 Feb;378(7):625-35.
24. Darras BT, Chiriboga CA, Iannaccone ST, Swoboda KJ, Montes J, Mignon L, Xia S, Bennett CF, Bishop KM, Shefner JM, Green AM, Sun P, Bhan I, Gheuens S, Schneider E, Farwell W, De Vivo DC; ISIS-396443-CS2/ISIS-396443-CS12 Study Groups. Nusinersen in later-onset spinal muscular atrophy: long-term results from the phase 1/2 studies. Neurology 2019 May;92(21):e2492-506.
25. De Vivo DC, Bertini E, Swoboda KJ, Hwu WL, Crawford TO, Finkel RS, Kirschner J, Kuntz NL, Parsons JA, Ryan MM, Butterfield RJ, Topaloglu H, Ben-Omran T, Sansone VA, Jong YJ, Shu F, Staropoli JF, Kerr D, Sandrock AW, Stebbins C, Petrillo M, Braley G, Johnson K, Foster R, Gheuens S, Bhan I, Reyna SP, Fradette S, Farwell W; NURTURE Study Group. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: interim efficacy and safety results from the phase 2 NURTURE study. Neuromuscular Disorders 2019 Nov;29(11):842-56.
26. SPINRAZA. Prescribing Information. Biogen; 2020.
27. Biogen Data on File [as of 05/22].
28. Walter MC, Wenninger S, Thiele S, Stauber J, Hiebeler M, Greckl E, Stahl K, Pechmann A, Lochmüller H, Kirschner J, Schoser B. Safety and treatment effects of nusinersen in longstanding adult 5q-SMA type 3 – a prospective observational study. Journal of Neuromuscular Diseases 2019;6(4):453-65.
29. Compston A. Aids to the investigation of peripheral nerve injuries. Medical Research Council: Nerve Injuries Research Committee. His Majesty’s Stationery Office: 1942, pp. 48 (iii) and 74 figures and 7 diagrams; with aids to the examination of the peripheral nervous system. By Michael O’Brien for the Guarantors of Brain. Saunders Elsevier: 2010; pp. [8] 64 and 94 Figures. Brain 2010 Oct;133(10):2838-44.
30. Bakker LA, Schröder CD, van Es MA, Westers P, Visser-Meily JMA, van den Berg LH. Assessment of the factorial validity and reliability of the ALSFRS-R: a revision of its measurement model. Journal of Neurology 2017 Jul;264(7):1413-20.
31. Dunaway S, Montes J, McDermott MP, Martens W, Neisen A, Glanzman AM, Pasternak A, Riley S, Sproule D, Chiriboga C, Finkel R, Tennekoon G, Darras B, De Vivo D, Pandya S. Physical therapy services received by individuals with spinal muscular atrophy (SMA). Journal of Pediatric Rehabilitation Medicine 2016;9(1):35-44.
32. Mazzone ES, Mayhew A, Montes J, Ramsey D, Fanelli L, Young SD, Salazar R, De Sanctis R, Pasternak A, Glanzman A, Coratti G, Civitello M, Forcina N, Gee R, Duong T, Pane M, Scoto M, Pera MC, Messina S, Tennekoon G, Day JW, Darras BT, De Vivo DC, Finkel R, Muntoni F, Mercuri E. Revised upper limb module for spinal muscular atrophy: development of a new module. Muscle & Nerve 2017 Jun;55(6):869-74.
33. O’Hagen JM, Glanzman AM, McDermott MP, Ryan PA, Flickinger J, Quigley J, Riley S, Sanborn E, Irvine C, Martens WB, Annis C, Tawil R, Oskoui M, Darras BT, Finkel RS, De Vivo DC. An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients. Neuromuscular Disorders 2007 Oct;17(9-10):693-7.
34. Dunaway Young S, Montes J, Kramer SS, Marra J, Salazar R, Cruz R, Chiriboga CA, Garber CE, De Vivo DC. Six-minute walk test is reliable and valid in spinal muscular atrophy. Muscle & Nerve 2016 Nov;54(5):836-42.
35. Pera MC, Coratti G, Forcina N, Mazzone ES, Scoto M, Montes J, Pasternak A, Mayhew A, Messina S, Sframeli M, Main M, Lofra RM, Duong T, Ramsey D, Dunaway S, Salazar R, Fanelli L, Civitello M, de Sanctis R, Antonaci L, Lapenta L, Lucibello S, Pane M, Day J, Darras BT, De Vivo DC, Muntoni F, Finkel R, Mercuri E. Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy. BMC Neurology 2017 Feb;17(1):39.
36. Pera MC, Coratti G, Mazzone ES, Montes J, Scoto M, De Sanctis R, Main M, Mayhew A, Muni Lofra R, Dunaway Young S, Glanzman AM, Duong T, Pasternak A, Ramsey D, Darras B, Day JW, Finkel RS, De Vivo DC, Sormani MP, Bovis F, Straub V, Muntoni F, Pane M, Mercuri E; iSMAC Consortium Group. Revised upper limb module for spinal muscular atrophy: 12 month changes. Muscle & Nerve 2019 Apr;59(4):426-30.
37. Veerapandiyan A, Eichinger K, Guntrum D, Kwon J, Baker L, Collins E, Ciafaloni E. Nusinersen for older patients with spinal muscular atrophy: a real-world clinical setting experience. Muscle & Nerve 2020 Feb;61(2):222-6.
38. Jochmann E, Steinbach R, Jochmann T, Chung HY, Rödiger A, Neumann R, Mayer TE, Kirchhof K, Loudovici-Krug D, Smolenski UC, Witte OW, Grosskreutz J. Experiences from treating seven adult 5q spinal muscular atrophy patients with nusinersen. Therapeutic Advances in Neurological Disorders 2020 Mar;13:1756286420907803.
39. Hagenacker T, Wurster CD, Günther R, Schreiber-Katz O, Osmanovic A, Petri S, Weiler M, Ziegler A, Kuttler J, Koch JC, Schneider I, Wunderlich G, Schloss N, Lehmann HC, Cordts I, Deschauer M, Lingor P, Kamm C, Stolte B, Pietruck L, Totzeck A, Kizina K, Mönninghoff C, von Velsen O, Ose C, Reichmann H, Forsting M, Pechmann A, Kirschner J, Ludolph AC, Hermann A, Kleinschnitz C. Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study. The Lancet. Neurology 2020 Apr;19(4):317-25.
40. Stolte B, Totzeck A, Kizina K, Bolz S, Pietruck L, Mönninghoff C, Guberina N, Oldenburg D, Forsting M, Kleinschnitz C, Hagenacker T. Feasibility and safety of intrathecal treatment with nusinersen in adult patients with spinal muscular atrophy. Therapeutic Advances in Neurological Disorders 2018 Oct;11:1756286418803246.
41. Wurster CD, Winter B, Wollinsky K, Ludolph AC, Uzelac Z, Witzel S, Schocke M, Schneider R, Kocak T. Intrathecal administration of nusinersen in adolescent and adult SMA type 2 and 3 patients. Journal of Neurology 2019 Jan:266(1):83-94.
42. Arevalo-Rodriguez I, Muñoz L, Godoy-Casasbuenas N, Ciapponi A, Arevalo JJ, Boogaard S, Roqué I, Figuls M. Needle gauge and tip designs for preventing post-dural puncture headache (PDPH). The Cochrane Database of Systematic Reviews 2017 Apr 7;4(4):CD010807.
43. Kaufmann P, McDermott MP, Darras BT, Finkel RS, Sproule DM, Kang PB, Oskoui M, Constantinescu A, Gooch CL, Foley AR, Yang ML, Tawil R, Chung WK, Martens WB, Montes J, Battista V, O’Hagen J, Dunaway S, Flickinger J, Quigley J, Riley S, Glanzman AM, Benton M, Ryan PA, Punyanitya M, Montgomery MJ, Marra J, Koo B, De Vivo DC; Muscle Study Group (MSG); Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy (PNCR). Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology 2012 Oct;79(18):1889-97.
44. Wadman RI, Wijngaarde CA, Stam M, Bartels B, Otto LAM, Lemmink HH, Schoenmakers MAGC, Cuppen I, van den Berg LH, van der Pol WL. Muscle strength and motor function throughout life in a cross-sectional cohort of 180 patients with spinal muscular atrophy types 1c–4. European Journal of Neurology 2018 Mar;25(3):512-18.
45. Hosseinibarkooie S, Peters M, Torres-Benito L, Rastetter RH, Hupperich K, Hoffmann A, Mendoza-Ferreira N, Kaczmarek A, Janzen E, Milbradt J, Lamkemeyer T, Rigo F, Bennett CF, Guschlbaue C, Büschges A, Hammerschmidt M, Riessland M, Kye MJ, Clemen CS, Wirth B. The power of human protective modifiers: PLS3 and CORO1C unravel impaired endocytosis in spinal muscular atrophy and rescue SMA phenotype. American Journal of Human Genetics 2016 Sep;99(3):647-65.
46. Maggi L, Bello L, Bonanno S, Govoni A, Caponnetto C, Passamano L, Grandis M, Trojsi F, Cerri F, Ferraro M, Bozzoni V, Caumo L, Piras R, Tanel R, Saccani E, Meneri M, Vacchiano V, Ricci G, Soraru’ G, D’Errico E, Tramacere I, Bortolani S, Pavesi G, Zanin R, Silvestrini M, Politano L, Schenone A, Previtali SC, Berardinelli A, Turri M, Verriello L, Coccia M, Mantegazza R, Liguori R, Filosto M, Marrosu G, Siciliano G, Simone IL, Mongini T, Comi G, Pegoraro E. Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3. Journal of Neurology, Neurosurgery, and Psychiatry 2020 Nov;91(11):1166-74.
47. McGraw S, Qian Y, Henne J, Jarecki J, Hobby K, Yeh WS. A qualitative study of perceptions of meaningful change in spinal muscular atrophy. BMC Neurology 2017 Apr;17(1):68.
48. Wan HWY, Carey KA, D’Silva A, Vucic S, Kiernan MC, Kasparian NA, Farrar MA. Health, wellbeing and lived experiences of adults with SMA: a scoping systematic review. Orphanet Journal of Rare Diseases 2020 Mar;15(1):70.
49. Yeo CJJ, Simeone SD, Townsend EL, Zhang RZ, Swoboda KJ. Prospective cohort study of nusinersen treatment in adults with spinal muscular atrophy. Journal of Neuromuscular Diseases 2020;7(3):257-68.
50. Osmanovic A, Ranxha G, Kumpe M, Müschen L, Binz C, Wiehler F, Paracka L, Körner S, Kollewe K, Petri S, Schreiber-Katz O. Treatment expectations and patient-reported outcomes of nusinersen therapy in adult spinal muscular atrophy. Journal of Neurology 2020 Aug;267(8):2398-407.
51. Duong T, Wolford C, McDermott MP, Macpherson CE, Pasternak A, Glanzman AM, Martens WB, Kichula E, Darras BT, De Vivo DC, Zolkipli-Cunningham Z, Finkel RS, Zeineh M, Wintermark M, Sampson J, Hagerman KA, Young SD, Day JW. Nusinersen treatment in adults with spinal muscular atrophy. Neurology. Clinical Practice 2021 Jun;11(3):e317-27.
52. Sansone VA, Coratti G, Pera MC, Pane M, Messina S, Salmin F, Albamonte E, De Sanctis R, Sframeli M, Di Bella V, Morando S, d’Amico A, Frongia AL, Antonaci L, Pirola A, Pedemonte M, Bertini E, Bruno C, Mercuri E; Italian ISMAC group. Sometimes they come back: new and old spinal muscular atrophy adults in the era of nusinersen. European Journal of Neurology 2021 Feb;28(2):602-8.
53. Konersman CG, Ewing E, Yaszay B, Naheedy J, Murphy S, Skalsky A. Nusinersen treatment of older children and adults with spinal muscular atrophy. Neuromuscular Disorders 2021 Mar;31(3):183-93.
54. Meyer T, Maier A, Uzelac Z, Hagenacker T, Günther R, Schreiber-Katz O, Weiler M, Steinbach R, Weyen U, Koch JC, Kettemann D, Norden J, Dorst J, Wurster C, Ludolph AC, Stolte B, Freigang M, Osmanovic A, Petri S, Grosskreutz J, Rödiger A, Griep R, Gaudlitz M, Walter B, Münch C, Spittel S. Treatment expectations and perception of therapy in adult patients with spinal muscular atrophy receiving nusinersen. European Journal of Neurology 2021 Aug;28(8):2582-95.
55. Coratti G, Cutrona C, Pera MC, Bovis F, Ponzano M, Chieppa F, Antonaci L, Sansone V, Finkel R, Pane M, Mercuri E. Motor function in type 2 and 3 SMA patients treated with nusinersen: a critical review and meta-analysis. Orphanet Journal of Rare Diseases 2021 Oct;16(1):430.
56. Gavriilaki M, Papaliagkas V, Stamperna A, Moschou M, Notas K, Papagiannopoulos S, Arnaoutoglou M, Kimiskidis VK. Biomarkers of therapeutic efficacy in adolescents and adults with 5q spinal muscular atrophy: a systematic review. Acta Neurologica Belgica 2022 Jul 21. doi: 10.1007/s13760-022-02028-6. Online ahead of print.
57. Vázquez-Costa JF, Povedano M, Nascimiento-Osorio AE, Moreno Escribano A, Kapetanovic Garcia S, Dominguez R, Exposito JM, González L, Marco C, Medina Castillo J, Muelas N, Natera de Benito D, Ñungo Garzón NC, Pitarch Castellano I, Sevilla T, Hervás D. Nusinersen in adult patients with 5q spinal muscular atrophy: a multicenter observational cohorts’ study. European Journal of Neurology 2022 Nov;29(11):3337-46.
58. Elman L, Youn B, Proud CM, Frey MR, Ajroud-Driss S, McCormick ME, Michelson D, Cartwright MS, Heiman-Patterson T, Choi JM, Chandak A, Khachatryan A, Martinez M, Paradis AD. Real-world adherence to nusinersen in adults with spinal muscular atrophy in the US: a multi-site chart review study. Journal of Neuromuscular Diseases 2022;9(5):655-60.
59. Iwayama H, Kawahara K, Takagi M, Numoto S, Azuma Y, Kurahashi H, Yasue Y, Kawajiri H, Yanase A, Ito T, Kimura S, Kumagai T, Okumura A. Long-term efficacy of nusinersen and its evaluation in adolescent and adult patients with spinal muscular atrophy types 1 and 2. Brain & Development 2023 Feb;45(2):110-6.
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