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Uso de las terapias modificadoras en atrofia muscular espinal 5q en México / Use of disease-modifying therapies in spinal muscular atrophy 5q in Mexico
Resumen
Resumen
La atrofia muscular espinal 5q (AME) es una enfermedad de motoneurona, autosómica recesiva que causa debilidad en las extremidades, el tronco, el diafragma y en músculos bulbares; sin tratamiento puede llevar a discapacidad motora severa e incluso a la muerte. La Food and Drug Administration (FDA) y la Comisión Federal para la Protección contra Riesgos Sanitarios (COFEPRIS) aprobaron 3 terapias para aumentar la producción de proteína de supervivencia de la motoneurona (SMN) y mejorar la fuerza muscular y la calidad de vida de los pacientes: nusinersen, onasemnogene abeparvovec xioi y risdiplam. A pesar de que estas terapias han demostrado eficacia, al momento no es posible establecer cuál de ellas es superior en comparación con las otras. Lo más importante es establecer el diagnóstico de la enfermedad e iniciar cualquiera de los tratamientos disponibles para evitar mayor discapacidad funcional y prevenir la muerte. Los 3 tratamientos tienen diferentes mecanismos de acción y distintos efectos adversos y el uso de cada uno de ellos deberá individualizarse de acuerdo con el perfil del paciente.
Abstract
5q Spinal Muscular Atrophy (SMA) is an autosomal recessive motor neuron disease that causes weakness in the limbs, trunk, diaphragm, and bulbar muscles; without treatment it can lead to severe motor disability and even death. The Food and Drug administration (FDA) and COFEPRIS (Mexico’s Federal Committee for Protection against Sanitary Risks) have approved 3 therapies to increase the production of survival motor neuron (SMN) protein and improve muscle strength and quality of life in patients: nusinersen, onasemnogene abeparvovec xioi, and risdiplam. Despite the fact that these therapies have shown efficacy, at the moment it is not possible to establish which of them is superior compared to the others. The most important thing is to establish the diagnosis of the disease and start any of the available treatments to avoid further functional disability and prevent death. The 3 treatments have different mechanisms of action and different adverse effects, and the use of each of them must be individualized according to the patient's profile.
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Lunn MR, Wang CH. Spinal muscular atrophy. Lancet. 2008;371:2120-33. doi: 10.1016/S0146736(08)60921-6.
Finkel RS, Mercuri E, Darras BT, et al. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med. 2017;377(18):1723-32. doi: 10.1056/NEJMoa1702752.
Mercuri E, Darras BT, Chiriboga CA, et al. Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. Supplementary Appendix. N Engl J Med. 2018;378(7):625-35. doi:10.1056/NEJMoa1710504.
Castro D, Finkel RS, Farrar MA, et al. Nusinersen in infantile-onset spinal muscular atrophy: results from longer-term treatment from the open-label SHINE extension study. Neurology. 2020;94 Suppl 15. doi: 10.1212/WNL.94.15_supplement.1640.
CureSMA. Biogen shares results from landmark NURTURE study of pre-symptomatic SMA patients treated with Spinraza. Curesma: June 10, 2020. Disponible en: www.curesma.org/biogen-spinraza-nurture-results-2020-meeting.
Spinraza. Prescribing information. Biogen; 2020. Disponible en: www.spinrazahcp.com/content/dam/commercial/spinraza/hcp/en_us/pdf/spinraza-prescribing-information.pdf.
Mercuri E, Darras BT, Chiriboga CA, et al; CHERISH Study Group. Nusinersen versus sham control in later-onset spinal muscular atrophy. N Engl J Med. 2018;378(7):625-35. doi: 10.1056/NEJMoa1710504.
Chiriboga CA, Darras BT, Farrar MA, et al. Longer-term treatment with nusinersen: results in later-onset spinal muscular atrophy from the SHINE study. Neurology. 2020;94 Suppl 15. doi: 10.1212/WNL.94.15_supplement.1661.
Day JW, Swoboda KJ, Darras BT, et al. Longer-term experience with nusinersen in teenagers and young adults with spinal muscular atrophy: results from the CS2/CS12 and SHINE studies. Neurology. 2020;94 Suppl 15. doi: 10.1212/WNL.94.15_supplement.1132.
De Vivo DC, Bertini E, Swoboda KJ, et al; 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. Neuromuscul Disord. 2019;29(11):842-56. doi: 10.1016/j.nmd.2019.09.007.
Study of Nusinersen (BIIB058) in Participants with Spinal Muscular Atrophy (DEVOTE). Clinical Trials. gov. Disponible en: clinicaltrials.gov/ct2/show/NCT04089566.
Biogen plans to initiate phase 4 study evaluating benefit of Spinraza (nusinersen) in patients treated with Zolgensma (onasemnogene abeparvovec). News release. Biogen. Disponible en: https://rb.gy/d87h2x.
Zolgensma. Prescribing information. AveXis; 2019. Disponible en: www.avexis.com/us/Content/pdf/prescribing_information.pdf.
Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1. ClinicalTrials.gov. Updated May 10, 2019. Disponible en: clinicaltrials.gov/ct2/show/NCT02122952.
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):1713-22. doi: 10.1056/NEJMoa1706198.
Long-Term Follow-up Study for Patients From AVXS-101-CL-101 (START). ClinicalTrials.gov. Updated November 17, 2020. Disponible en: clinicaltrials.gov/ct2/show/NCT03421977?term=onase mnogene&draw=2&rank=7.
Al-Zaidy SA, Kolb SJ, Lowes L, et al. AVXS-101 (onasemnogene abeparvovec) for SMA1: comparative study with a prospective natural history cohort. J Neuromuscul Dis. 2019;6(3):307-17. doi: 10.3233/jnd-190403.
Day JW, Chiriboga CA, Crawford TO, et al. Onasemnogene abeparvovec-xioi gene-replacement therapy for spinal muscular atrophy type 1 (SMA1): phase 3 US study (STR1VE) update (1828). Neurology. 2020;94(suppl 15). https://n.neurology.org/content/94/15_Supplement/1828.
Day JW, Chiriboga CA, Crawford T, et al. MDA Virtual Clinical & Scientific Conference. Poster 40. Muscular Dystrophy Association. mdaconference.org/node/929.
Strauss KA, Farrar MA, Muntoni, F, 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. 2022. Nature Medicine;28(7):1381-9.
Zolgensma data shows rapid, significant, clinically meaningful benefit in SMA including prolonged event-free survival, motor milestone achievement and durability now up to 5 years post-dosing. Novartis. March 24, 2020. Disponible en: novartis.com/news/media-releases/zolgensma-datashows-rapid-significant-clinically-meaningful-benefit-sma-including-prolonged-event-free-survivalmotor-milestone-achievement-and-durability-now.
Pre-Symptomatic Study of Intravenous Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy (SMA) for Patients With Multiple Copies of SMN2 (SPRINT). ClinicalTrials.gov. Updated November 17, 2020. Disponible en: clinicaltrials.gov/ct2/show/NCT03505099.
Zolgensma. SMA News Today. Updated January 3, 2021. Disponible en: https://www.evrysdi-hcp.com/content/dam/gene/evrysdi-hcp/pdf/evrysdi-hcp-dosing-guide.pdf.
Study of Intrathecal Administration of Onasemnogene Abeparvovec-xioi for Spinal Muscular Atrophy (STRONG). ClinicalTrials.gov. Updated November 17, 2020. Disponible en: clinicaltrials.gov/ct2/show/NCT03381729.
Feldman AG, Parsons JA, Dutmer CM, et al. Subacute liver failure following gene replacement therapy for spinal muscular atrophy type 1. J Pediatr. 2020;225:252-258.e1. doi: 10.1016/j.jpeds.2020.05.044.
Chand D, Mohr F, McMillan H, et al. Hepatotoxicity following administration of onasemnogene abeparvovec (AVXS-101) for the treatment of spinal muscular atrophy. J Hepatol. 2020. doi: 10.1016/j.jhep.2020.11.001.
Schorling DC, 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. doi: 10.3233/JND-190424.
Wexler M. Zolgensma (onasemnogene abeparvovec-xioi) for SMA. SMA News Today; updated April 18, 2023. Disponible en: https://smanewstoday.com/zolgensma/
Baranello G, Servais L, Day JW, et al. FIREFISH Part 1: 1-Year results on motor function in babies with type 1 SMA (S25.003). Neurology. 2019;92 Suppl 15. doi: 10.1212/WNL.92.15_supplement.S25.003.
Servais L, Baranello G, Masson R, et al; FIREFISH Working Group. FIREFISH part 2: Efficacy and safety of risdiplam (RG7916) in infants with type 1 spinal muscualr atrophy (SMA). Neurology. 2020;94. doi: 10.1212/WNL.94.15_supplement.1302.
Novartis. Zolgensma Global Managed Access Program in 2023. Updated January 9, 2023. Disponible en: https://www.novartis.com/news/zolgensma-global-managed-access-program-2023.
DOI: https://doi.org/10.24875/10.5281/zenodo.12668159
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