Spinal muscular atrophy – the effectiveness of treatment and new therapeutic possibilities for selected groups of patients in Poland

Katarzyna Kozon; Małgorzata Krzyżanowska; Jakub Olszewski; Andrzej Patyra

doi:10.56782/pps.134

Published : 2023-06-14

Vol. 21 No. 2 (2023)

Spinal muscular atrophy – the effectiveness of treatment and new therapeutic possibilities for selected groups of patients in Poland

Katarzyna Kozon

Małgorzata Krzyżanowska

Jakub Olszewski

Andrzej Patyra

DOI: https://doi.org/10.56782/pps.134

Abstract

Spinal muscular atrophy (SMA) is a rare hereditary neuromuscular disorder caused by a genetic mutation in the Survival of motor neuron 1 (SMN1) gene, which is responsible for the production of a protein essential to motor neurons’ survival. Insufficient levels of the SMN protein lead to the loss of motor neurons in the spinal cord, which manifests in progressive muscle wasting. Due to the absence of an effective treatment in the early years, the disease was taking its toll with the respiratory problems being the primary cause of death. Currently, there are multiple approved treatments for SMA, which help to manage the symptoms and to prevent complications, such as nusinersen, risdiplam, and onasemnogene abeparvovec. In Poland, nusinersen treatment has been offered free of charge by the public health service since 2019. It was not until September 2022 that the reimbursement procedure included the other two drugs. The recently published studies on the nusinersen treatment in Poland showed stabilization or slowdown in the progression of symptoms in all patients. In March 2022, Poland implemented an SMA screening program for newborns, which aimed to detect this fatal and disabling disease before the infant displayed any SMA symptoms. The program resulted so far in early diagnosis and intervention providing a better prognosis for patients. Combination of newborn screening and the drug reimbursement program has significantly increased the chances of SMA patients for effective treatment.

Keywords:

SMA, nusinersen, risdiplam, zolgensma

Most read articles by the same author(s)

Jakub Olszewski, Katarzyn Kozon, Andrzej Patyra, Flozins in heart failure – a new reimbursement indication , Prospects in Pharmaceutical Sciences: Vol. 20 No. 1 (2022)
Andrzej Patyra, Marcin Kołakowski, Marta Katarzyna Dudek, Anna Karolina Kiss, Isolation of trachelogenin 4-O-β-D-glucoside from the fruits of Carthamus tinctorius L. , Prospects in Pharmaceutical Sciences: Vol. 20 No. 2 (2022)
Adam Piasecki, Magdalena Sitnik, Jakub Olszewski, Maciej Bara, Katarzyna Herjan, Piotr Armański, The changing landscape of mineralocorticoid receptor antagonists – finerenone in cardiovascular and renal health , Prospects in Pharmaceutical Sciences: Vol. 22 No. 1 (2024)
Andrzej Patyra, Grzegorz Witkowski, Voltage-gated sodium channels mutations and their role in epilepsy , Prospects in Pharmaceutical Sciences: Vol. 20 No. 1 (2022)
Małgorzata Krzyżanowska, Katarzyna Kozon, Jakub Olszewski, Andrzej Patyra, Efficacy of satralizumab therapy in the treatment of NMOSD , Prospects in Pharmaceutical Sciences: Vol. 21 No. 3 (2023)
Andrzej Patyra, Twenty years of Prospects in Pharmaceutical Sciences: recent changes , Prospects in Pharmaceutical Sciences: Vol. 21 No. 3 (2023)

Details

References

Statistics

Authors

Download files

pdf

Citation rules

Kozon, K., Krzyżanowska, M., Olszewski, J., & Patyra, A. (2023). Spinal muscular atrophy – the effectiveness of treatment and new therapeutic possibilities for selected groups of patients in Poland. Prospects in Pharmaceutical Sciences, 21(2), 68–72. https://doi.org/10.56782/pps.134

Altmetric indicators

Cited by / Share

Licence

This work is licensed under a Creative Commons Attribution 4.0 International License.

References

Vill, K., et al., One Year of Newborn Screening for SMA - Results of a German Pilot Project. J. Neuromuscul Dis, 2019. 6(4): p. 503-515. doi: 10.3233/jnd-190428 DOI: https://doi.org/10.3233/JND-190428

Jedrzejowska, M., et al., Incidence of spinal muscular atrophy in Poland--more frequent than predicted? Neuroepidemiology, 2010. 34(3): p. 152-7. doi: 10.1159/000275492 DOI: https://doi.org/10.1159/000275492

Lusakowska, A., et al., Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy. Orphanet J Rare Dis, 2021, 16(1), Art. No: 150, doi: 10.1186/s13023-021-01771-y DOI: https://doi.org/10.1186/s13023-021-01771-y

Kotulska-Jóźwiak, K, K.-P.A., Mazurkiewicz-Bełdzińska, M. et al., Rdzeniowy zanik mięśni (SMA). Leczenie SMA w Polsce. Nowa jakość pacjentów i opiekunów ISBN:978-83-962944-5-6. 2022: Warszawa.

Jedrzejowska, M., et al., Unaffected patients with a homozygous absence of the SMN1 gene. Eur J Hum Genet, 2008. 16(8): p. 930-4., doi: 10.1038/ejhg.2008.41 DOI: https://doi.org/10.1038/ejhg.2008.41

Wirth, B., et al., Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet, 2006. 119(4): p. 422-8., doi: 10.1007/s00439-006-0156-7 DOI: https://doi.org/10.1007/s00439-006-0156-7

Kolb, S.J., et al., Natural history of infantile-onset spinal muscular atrophy. Ann Neurol, 2017. 82(6): p. 883-891, doi: 10.1002/ana.25101 DOI: https://doi.org/10.1002/ana.25101

Lejman, J., et al., Gene Therapy in ALS and SMA: Advances, Challenges and Perspectives. Int J Mol Sci, 2023. 24(2) Art. No:1130, doi: 10.3390/ijms24021130 DOI: https://doi.org/10.3390/ijms24021130

Finkel, R., et al., Efficacy and safety of nusinersen in infants with spinal muscular atrophy (SMA): final results from the phase 3 ENDEAR study. Eur. J. Paediatr. Neurol., 2017. 21: p. e14-e15, doi: 10.1016/j.ejpn.2017.04.1219 DOI: https://doi.org/10.1016/j.ejpn.2017.04.1219

Abreu, N.J. and M.A. Waldrop, Overview of gene therapy in spinal muscular atrophy and Duchenne muscular dystrophy. Pediatr Pulmonol, 2021. 56(4): p. 710-720, doi: 10.1002/ppul.25055 DOI: https://doi.org/10.1002/ppul.25055

Baranello, G., et al., Risdiplam in Type 1 Spinal Muscular Atrophy. N Engl J Med, 2021. 384(10): p. 915-923, doi: 10.1056/NEJMoa2009965 DOI: https://doi.org/10.1056/NEJMoa2009965

Dhillon, S., Risdiplam: First Approval. Drugs, 2020. 80(17): p. 1853-1858, doi: 10.1007/s40265-020-01410-z DOI: https://doi.org/10.1007/s40265-020-01410-z

FDA. CDER Highlights of Prescribing Information: EVRYSDI (Risdisplam) [cited 2023 24.02.2023]; Available from: https://www.accessdata.fda.gov/drugsatfda_docs/label/2022/213535s003s005lbl.pdf.

Ravi, B., et al., Genetic approaches to the treatment of inherited neuromuscular diseases. Hum Mol Genet, 2019. 28(R1): p. R55-r64, doi: 10.1093/hmg/ddz131 DOI: https://doi.org/10.1093/hmg/ddz131

Poirier, A., et al., Risdiplam distributes and increases SMN protein in both the central nervous system and peripheral organs. Pharmacol Res Perspect, 2018. 6(6): Art. No: e00447, doi: 10.1002/prp2.447 DOI: https://doi.org/10.1002/prp2.447

Waldrop, M.A. and S.J. Kolb, Current Treatment Options in Neurology-SMA Therapeutics. Curr Treat Options Neurol, 2019. 21(6): Art.No: 25, doi: 10.1007/s11940-019-0568-z DOI: https://doi.org/10.1007/s11940-019-0568-z

Majchrzak-Celińska, A.A., A. Warych, and M. Szoszkiewicz, Rdzeniowy zanik mięśni–onasemnogene abeparvovec i inne opcje terapeutyczne. Farmacja Polska, 2020. 76(1): p. 10-17, doi: 10.32383/farmpol/118343 DOI: https://doi.org/10.32383/farmpol/118343

Jączak-Goździak, M. and B. Steinborn, Terapie genowe i genetyczne w chorobach nerwowo-mięśniowych wieku dziecięcego. Neurologia Dziecięca, 2020. 29(58): p. 11-18, doi: 10.20966/chn.2020.58.453 DOI: https://doi.org/10.20966/chn.2020.58.453

Załącznik B.102 Leczenie Rdzeniowego Zaniku Mięśni. [cited 2023 24.02]; Available from: https://www.gov.pl/attachment/7feb6c24-b7f6-4a76-b87b-8064308b6495.

Kotulska, K., et al., Safety, tolerability, and efficacy of a widely available nusinersen program for Polish children with Spinal Muscular Atrophy. Eur J Paediatr Neurol, 2022. 39: p. 103-109, doi: 10.1016/j.ejpn.2022.06.001 DOI: https://doi.org/10.1016/j.ejpn.2022.06.001

Finkel, R.S., et al., Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med, 2017. 377(18): p. 1723-1732, doi: 10.1056/NEJMoa1702752 DOI: https://doi.org/10.1056/NEJMoa1702752

Vill, K., et al., Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years. Orphanet J Rare Dis, 2021. 16(1): Art.No: 153, doi: 10.1186/s13023-021-01783-8 DOI: https://doi.org/10.1186/s13023-021-01783-8

De Vivo, D.C., et al., 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): p. 842-856, doi: 10.1016/j.nmd.2019.09.007 DOI: https://doi.org/10.1016/j.nmd.2019.09.007

Finkel, R.S., et al., Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology, 2014. 83(9): p. 810-7, doi: 10.1212/wnl.0000000000000741 DOI: https://doi.org/10.1212/WNL.0000000000000741

Hale, J.E., et al., Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy. Int J Neonatal Screen, 2021. 7(2), doi: 10.3390/ijns7020026 DOI: https://doi.org/10.3390/ijns7020026

Strauss, K.A., 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): p. 1390-1397, doi: 10.1038/s41591-022-01867-3 DOI: https://doi.org/10.1038/s41591-022-01867-3

Przedłużenie Rządowego programu badań przesiewowych w Polsce na lata 2023-2026 [accessed 2023 24.02]; Available from: https://www.gov.pl/attachment/1b5df5d8-58e0-4eea-95fc-8f45fb58914d

Ołtarzewski, M. Badania przesiewowe noworodków w Polsce, 2018 rok. Postępy Neonatologii, 2018. 24(2) p:111-122, doi: 10.31350/postepyneonatologii/2018/2/ DOI: https://doi.org/10.31350/postepyneonatologii/2018/2/PN2018025

Katarzyna Kozon

s077311@student.wum.edu.pl

Affiliation:

Student's Scientific Group, Department of Nephrology, Dialysis and Internal Medicine, Medical University of Warsaw, Warsaw, Poland Poland

Małgorzata Krzyżanowska

Affiliation:

Student's Scientific Group, Department of Nephrology, Dialysis and Internal Medicine, Medical University of Warsaw, Warsaw, Poland Poland

Jakub Olszewski

Affiliation:

Student's Scientific Group, Medical Simulation Center, Medical University of Warsaw, Warsaw, Poland Poland

Andrzej Patyra

andrzej.patyra@wum.edu.pl

Affiliation:

Department of Pharmaceutical Biology, Faculty of Pharmacy, Medical University of Warsaw, Warsaw, Poland Poland