Consensus on Gene Replacement Therapy for the Treatment for Spinal Muscular Atrophy
https://doi.org/10.46563/2686-8997-2023-4-2-64-73
EDN: cgpzyn
Abstract
Members of the working group:
Svetlana B. Artemyeva, MD, PhD, Head of the Neurological department of the Research Clinical Institute of Pediatrics named after Yu.E. Veltishchev; Russian Federation;
Elena D. Belousova, MD, PhD, DSci, Professor, Head of the Department of psychoneurology and epileptology of pediatrics, Research Clinical Institute of Pediatrics named after Yu.E. Veltishchev, Russian Federation;
Dmitry V. Vlodavets, MD, PhD, President of the Association of Pediatric Neurologists in the field of myology NeoMyo, Head of the Russian Children’s Neuromuscular Center at the Research Clinical Institute of Pediatrics and Pediatric Surgery named after Yu. E. Veltishchev; leading researcher, Department of psychoneurology and epileptology, Research Clinical Institute of Pediatrics and Pediatric Surgery named after Yu.E. Veltishchev; Associate Professor of the Department of neurology, neurosurgery and medical genetics named after L.O. Badalyan, Faculty of pediatrics, Russian National Research Medical University named after N.I. Pirogov, Russian Federation;
Sergey V. Voronin, MD, PhD, chief physician of the Medical Genetic Research Center named after N.P. Bochkov, сhief freelance specialist in medical genetics of the Ministry of Health of Russia in the Far Eastern Federal District, Russian Federation;
Andrey S. Glotov, MD, PhD, DSci., Head of the Department of genomic medicine named after V.S. Baranov of the Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott, Russian Federation;
Valentina I. Guzeva, MD, PhD, DSci., Prof., chief freelance children’s specialist of the Russian Ministry of Health in Neurology, Honored Scientist of the Russian Federation, Head of the Department of neurology, neurosurgery and medical genetics, St. Petersburg State Pediatric Medical University, member of the Presidium of the Russian Society of Neurologists, Russian Federation;
Altynshash K. Jaxybayeva, MD, PhD, DSci., Head of the Department of neurology, Astana Medical University, chief freelance pediatric neurologist of the Ministry of Health of the Republic of Kazakhstan, Republic of Kazakhstan;
Irina V, Zhevneronok, MD, PhD, Associate Professor of the Department of pediatric neurology of the Belarusian Medical Academy of Postgraduate Education, chief specialist of the Ministry of Health of the Republic of Belarus on hereditary neuromuscular diseases in children; Head of the Department of hereditary neuromuscular diseases of the Republican Scientific and Practical Center “Mother and Child”, Republic of Belarus;
Viktoria S. Kakaulina, neurologist, Center for Orphan and Other Rare Diseases, Morozov Children’s Municipal Clinical Hospital, Russian Federation;
Lyudmila M. Kuzenkova, MD, PhD, DSci., Prof., Head of the Center for Child Psychoneurology, Head of the Department of Psychoneurology and Psychosomatic Pathology of the National Medical Research Center for Children’s Health; prof. of the Department of pediatrics and pediatric rheumatology of the Sechenov First Moscow State Medical University, Russian Federation;
Svetlana V. Mikhailova, MD, PhD, DSci., Professor of the Department of neurology, neurosurgery and medical genetics named after Badalyan, Faculty of Pediatrics, Professor of the Department of general and medical genetics, Faculty of Medicine and Biology, Head of the Department of medical genetics of the Russian Children’s Clinical Hospital of the N.I. Pirogov Russian National Research Medical University, Russian Federation;
Kristina S. Nevmerzhitskaya, MD, PhD, Assistant of the Department of nervous diseases, Ural State Medical University, Head of the Department of neurology, Sverdlovsk Region Clinical Hospital, Russian Federation;
Tatyana M. Pervunina, MD, PhD, DSci., Director of the Institute of Perinatology and Pediatrics named after V.A. Almazov, Russian Federation;
Sofia G. Popovich, junior researcher, Department of psychoneurology and psychosomatic pathology, National Medical Research Center for Children’s Health, Russian Federation;
Irina B. Sosnina, chief physician of the St. Petersburg Consultative and Diagnostic Center for Children, chief freelance children’s specialist neurologist of the Committee on Health of St. Petersburg, Russian Federation;
Eugeniya V. Uvakina, junior researcher, Department of psychoneurology and psychosomatic pathology, National Medical Research Center for Children’s Health, Russian Federation;
Lyudmila M. Shchugareva, MD, PhD, DSci., Professor of the Department of pediatric neuropathology and neurosurgery, North-Western State Medical University. I.I. Mechnikov, head of the Department of neurology, St. Petersburg Children’s City Multidisciplinary Clinical Specialized Center for High Medical Technologies, Russian Federation
References
1. Verhaart I.E.C., Robertson A., Wilson I.J., Aartsma-Rus A., Cameron S., Jones C.C., et al. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy – a literature review. Orphanet J. Rare Dis. 2017; 12(1): 124. https://doi.org/10.1186/s13023-017-0671-8
2. Calucho M., Bernal S., Alías L., March F., Venceslá A., Rodríguez-Álvarez F.J., 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): 208–15. https://doi.org/10.1016/j.nmd.2018.01.003
3. Russian clinical guidelines «Proximal spinal muscular atrophy». Available at: https://cr.minzdrav.gov.ru/schema/593_3 (in Russian)
4. Saffari A. Novel challenges in spinal muscular atrophy – how to screen and whom to treat? Ann. Clin. Transl. Neurol. 2019; 6(1): 197–205. https://doi.org/10.1002/acn3.689
5. Arnold W.D., Kassar D., Kissel J.T. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve. 2015; 51(2): 157–67. https://doi.org/10.1002/mus.24497
6. Kolb S.J., Coffey C.S., Yankey J.W., Krosschell K., Arnold W.D., Rutkove S.B., et al. Natural history of infantile – onset spinal muscular atrophy. Ann. Neurol. 2017; 82(6): 883–91. https://doi.org/10.1002/ana.25101
7. Finkel R.S., McDermott M.P., Kaufmann P., Darras B.T., Chung W.K., Sproule D.M., et al. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology. 2014; 83(9): 810–7. https://doi.org/10.1212/wnl.0000000000000741
8. Schorling D.C., Pechmann A., Kirschner J. Advances in treatment of spinal muscular atrophy – new phenotypes, new challenges, new implications for care. J. Neuromuscul. Dis. 2020; 7(1): 1–13. https://doi.org/10.3233/jnd-190424
9. Al-Zaidy S.A., Mendell J.R. From clinical trials to clinical practice: practical considerations for gene replacement therapy in SMA type 1. Pediatr. Neurol. 2019; 100: 3–11. https://doi.org/10.1016/j.pediatrneurol.2019.06.007
10. Order of the Ministry of Health of the Russian Federation No. 274n «On approval of the Procedure for providing medical care to patients with congenital and (or) hereditary diseases». Moscow; 2022. (in Russian)
11. The Circle of Good Foundation. Available at: https://фондкругдобра.рф/ (in Russian)
12. Mendell J.R., Al-Zaidy S., Shell R., Arnold W.D., Rodino-Klapac L.R., Prior T.W., et al. Single-dose gene-replacement therapy for spinal muscular atrophy. N. Engl. J. Med. 2017; 377(18): 1713–22. https://doi.org/10.1056/nejmoa1706198
13. Day J.W., Finkel R.S., Chiriboga C.A., Connolly A.M., Crawford T.O., Darras B.T., et al. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial. Lancet Neurol. 2021; 20(4): 284–93. https://doi.org/10.1016/s1474-4422(21)00001-6
14. Mercuri E., Muntoni F., Baranello G., Masson R., Boespflug-Tanguy O., Bruno C., et al. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial. Lancet Neurol. 2021; 20(10): 832–41. https://doi.org/10.1016/S1474-4422(21)00251-9
15. ClinicalTrials.gov. Single-dose gene replacement therapy using for patients with spinal muscular atrophy type 1 with one or two SMN2 copies. Available at: https://clinicaltrials.gov/ct2/show/NCT03837184?term=onasemnogene&draw=2&rank=3
16. Strauss K.A., Farrar M.A., Muntoni F., Saito K., Mendell J.R., Servais L., et al. Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial. Nat. Med. 2022; 28(7): 1381–9. https://doi.org/10.1038/s41591-022-01866-4
17. Strauss K.A., Farrar M.A., Muntoni F., Saito K., Mendell J.R., Servais L., et al. Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: The Phase III SPR1NT trial. Nat Med. 2022; 28(7): 1390–7. https://doi.org/10.1038/s41591-022-01867-3
18. D’Silva A.M., Kariyawasam D.S.T., Best S., Wiley V., Farrar M.A. NSW SMA NBS Study Group. Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme. Dev. Med. Child Neurol. 2022; 64(5): 625–32. https://doi.org/10.1111/dmcn.15117
19. Blaschek A., Kölbel H., Schwartz O., Köhler C., Gläser D., Eggermann K., et al. Newborn screening for SMA – can a wait-and-see strategy be responsibly justified in patients with four SMN2 copies? J. Neuromuscul. Dis. 2022; 9(5): 597–605. https://doi.org/10.3233/jnd-221510
20. Vill K., Schwartz O., Blaschek A., Gläser D., Nennstiel U., Wirth B., et al. Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years. Orphanet. J. Rare Dis. 2021; 16(1): 153. https://doi.org/10.1186/s13023-021-01783-8
21. Glascock J., Sampson J., Connolly A.M., Darras B.T., Day J.W., Finkel R., et al. Revised recommendations for the treatment of infants diagnosed with spinal muscular atrophy via newborn screening who have 4 copies of SMN2. J. Neuromuscul. Dis. 2020; 7(2): 97–100. https://doi.org/10.3233/jnd-190468
22. Baker M.W., Mochal S.T., Dawe S.J., Wiberley-Bradford A.E., Cogley M.F., Zeitler B.R., et al. Newborn screening for spinal muscular atrophy: The Wisconsin first year experience. Neuromuscul. Disord. 2022; 32(2): 135–41. https://doi.org/10.1016/j.nmd.2021.07.398
23. Finkel R., Benguerba K., Gehani M., Raju D., Faulkner E., LaMarca N., et al. Outcomes in patients with spinal muscular atrophy and four or more SMN2 copies treated with onasemnogene abeparvovec: Findings from RESTORE. Available at: https://www.mdaconference.org/abstract-library/outcomes-in-patients-with-spinal-muscular-atrophy-and-four-or-more-smn2-copies-treated-with-onasemnogene-abeparvovec-findings-from-restore/
24. General characteristics of the drug Zolgensma; 2022. Available at: https://www.novartis.com/ru-ru/sites/novartis_ru/files/2022-11-28-Zolgensma-SmPC.pdf (in Russian)
25. Seroprevalence and half-life of pre-existing anti–adeno-associated virus serotype 9 (AAV9) antibodies in neonates. Poster N45 presented at MDA 2023 Congress. Available at: https://www.mdaconference.org/abstract-library/seroprevalence-and-half-life-of-pre-existing-anti-adeno-associated-virus-serotype-9-aav9-antibodies-in-neonates/
26. Day J.W., Finkel R.S., Mercuri E., Swoboda K.J., Menier M., van Olden R., et al. Adeno-associated virus serotype 9 antibodies in patients screened for treatment with onasemnogene abeparvovec. Mol. Ther. Methods Clin. Dev. 2021; 21: 76–82. https://doi.org/10.1016/j.omtm.2021.02.014
27. Finkel R.S., Day J.W., De Vivo D.C., Kirschner J., Mercuri E., Muntoni F., et al. RESTORE: A prospective multinational registry of patients with genetically confirmed spinal muscular atrophy – rationale and study design. J. Neuromuscul Dis. 2020; 7(2): 145–52. https://doi.org/10.3233/JND-190451
28. Kirschner J., Butoianu N., Goemans N., Haberlova J., Kostera-Pruszczyk A., Mercuri E., et al. European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy. Eur. J. Paediatr. Neurol. 2020; 28: 38–43. https://doi.org/10.1016/j.ejpn.2020.07.001
29. Order of the Ministry of Health of the Russian Federation No. 1122n «On approval of the national calendar of preventive vaccinations, the calendar of preventive vaccinations for epidemic indications and the procedure for preventive vaccinations». Moscow; 2021. (in Russian)
30. Kotulska K., Jozwiak S., Jedrzejowska M., Gos M., Ogrodnik M., Wysocki J., et al. Newborn screening and gene therapy in SMA: Challenges related to vaccinations. Front. Neurol. 2022; 13: 890860. https://doi.org/10.3389/fneur.2022.890860
Review
For citations:
Consensus on Gene Replacement Therapy for the Treatment for Spinal Muscular Atrophy. L.O. Badalyan Neurological Journal. 2023;4(2):64-73. https://doi.org/10.46563/2686-8997-2023-4-2-64-73. EDN: cgpzyn