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Journal of Education, Health and Sport

An Advancements In Treatment Of Amyotrophic Lateral Sclerosis (ALS): Symptoms, causes, gene theraphy. Literature review
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  • An Advancements In Treatment Of Amyotrophic Lateral Sclerosis (ALS): Symptoms, causes, gene theraphy. Literature review
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  3. Vol. 82 (2025) /
  4. Medical Sciences

An Advancements In Treatment Of Amyotrophic Lateral Sclerosis (ALS)

Symptoms, causes, gene theraphy. Literature review

Authors

  • Weronika Ożóg F. Chopin University Clinical Hospital in Rzeszów,  Ul. F.Szopena 2, 35-055 Rzeszów https://orcid.org/0009-0004-5507-0820
  • Martyna Borowska-Łygan Mazovian Specialized Hospital in Radom, u.J.Aleksandrowicza 5, 26-617 Radom https://orcid.org/0009-0001-9402-7444
  • Patrycja Grzech F. Chopin University Clinical Hospital in Rzeszów,  Ul. F.Szopena 2, 35-055 Rzeszów https://orcid.org/0009-0002-2803-9225
  • Lena Kreczyńska Medical Center in Nowy Dwor Mazowiecki; 2 Miodowa Street, 05-100 Nowy Dwor Mazowiecki https://orcid.org/0000-0002-8803-1383
  • Aleksandra Banach Mazovian Specialized Hospital in Radom, u.J.Aleksandrowicza 5, 26-617 Radom https://orcid.org/0009-0001-7296-3004
  • Weronika Zubrzycka 5th Military Clinical Hospital with Polyclinic SPZOZ in Krakow, ul. Wrocławska 1/3, 30-901 Kraków https://orcid.org/0009-0000-8071-7500
  • Klaudia Piskorowska 5th Military Clinical Hospital with Polyclinic SPZOZ in Krakow, ul. Wrocławska 1/3, 30-901 Kraków https://orcid.org/0009-0000-9134-0745
  • Patryk Harnicki University of Rzeszów https://orcid.org/0009-0008-2689-6366

DOI:

https://doi.org/10.12775/JEHS.2025.82.60449

Keywords

amyotrophic lateral sclerosis, riluzole, tofersen, SOD1, EL ESCORIAL SCALE

Abstract

Introduction and Objective: Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by the loss of motor neurons. Each year, amyotrophic lateral sclerosis is diagnosed in 4-5 people per 100,000 population.  The disease is commonly known as Lou-Gehrig's disease after the famous American baseball player who died two years after receiving the diagnosis at the age of 39.  The etiology of the disease is not fully understood, but gene mutations that contribute to the development of ALS have been identified.  Such mutations include the gene encoding superoxide dismutase type 1 (SOD1), C9orf72, TBK1 and FUS125, among others.  Since the first SOD1 mutation was identified as the genetic cause of SLA, there has been a significant milestone in clinical research aimed at finding a cure for this terminal and dreaded disease. In this article, we will discuss the early symptoms of ALS, factors that increase the risk of developing the disease and, most important, the knowledge and latest treatments, such as the use of antisense oligonucleotides (ASOs).

Aim of  Study: This article presents up-to-date treatments for the neurodegenerative disease amyotrophic lateral sclerosis, focusing on recent clinical trials and their potential therapeutic targets. We will also review interdisciplinary treatments such as mechanical ventilation and pain management. We will also discuss factors that increase the risk of developing this incurable disease.

 Materials and methods:

 For this review article, databases such as PubMed and Google Scholar were searched.  The search terms used to find relevant scientific articles included: Amyotrophic Lateral Sclerosis, ALS treatment, Tofersen, Riluzole. Ultimately, 35 research articles were cited.

References

[1] Rubinowicz-Zasada M, et al. Stwardnienie boczne zanikowe – choroba neuronu ruchowego. Prezentacja przypadku. Pediatria i Medycyna Rodzinna. 2015;11(1):112-118. DOI: 10.15557/PiMR.2015.0010

[2] Ingre C, Roos P, Piehl F, Kamel F, Fang F. Risk factors for amyotrophic lateral sclerosis. Clin Epidemiol. 2015;7:181-193. DOI:10.2147/CLEP.S37505.

[3] Rowland LP, Shneider NA. Amyotrophic lateral sclerosis. N Engl J Med. 2001;344(22):1688-1700. DOI: 10.1056/NEJM200105313442207 [4] Hartmaier SL, et al. Qualitative measures that assess functional disability and quality of life in ALS. Health Qual Life Outcomes. 2022;20(1):12. DOI: 10.1186/ s12955-022-01919-9

[5] Wang H, Guan LP, Deng M. Recent progress of the genetics of amyotrophic lateral sclerosis and challenges of gene therapy. Front Neurosci. 2023;17:1170996. DOI: 10.3389/ fnins.2023.1170996

[6] Hardiman O, et al. Amyotrophic lateral sclerosis. Nat Rev Dis Primers. 2017;3(1):1-19. DOI: 10.1038/ nrdp.2017.85

[7] Seki S, et al. Characteristics of sensory neuron dysfunction in amyotrophic lateral sclerosis (ALS): Potential for ALS therapy. Biomedicines. 2023;11(11):2967. DOI: 10.3390/ biomedicines11112967

[8] El escorial scale: https://www.mp.pl/interna/table/B01.IX.H.1-1

[9] Rizea, Radu Eugen, et al. "Understanding amyotrophic lateral sclerosis: pathophysiology, diagnosis, and therapeutic advances." International Journal of Molecular Sciences 25.18 (2024): 9966. DOI: 10.3390/ijms25189966

[10] Zarei S, et al. A comprehensive review of amyotrophic lateral sclerosis. Surg Neurol Int. 2015;6:171. DOI: 10.4103/2152-7806.169561

[11] Amado DA, et al. AAV-mediated progranulin delivery to a mouse model of progranulin deficiency causes T cell-mediated toxicity. Mol Ther. 2019;27(2):465-478 DOI: 10.1016/ /j.ymthe.2018.11.013. [12] Yang X, et al. Amyotrophic lateral sclerosis: molecular mechanisms, biomarkers, and therapeutic strategies. Antioxidants. 2021;10(7):1012. DOI: 10.3390/antiox10071012 [13] Boros BD, et al. Antisense Oligonucleotides for the Study and Treatment of ALS. Neurotherapeutics. 2022;19(4):1145-1158. DOI : 10.1007/s13311-022-01247-2 [14] Holm A, et al. Clinical advances of RNA therapeutics for treatment of neurological and neuromuscular diseases. RNA Biol. 2022;19(1):594-608. DOI: 10.1080/15476286.2022.2066334

[15]Walczak J, Szczepanowska J. Zaburzenia dynamiki i dystrybucji mitochondriów w komórkach w stwardnieniu zanikowym bocznym (ALS). Postępy Biochemii. 2015;61(2):183-190. PMID: 26689011 [16] Nijs M, Van Damme P. The genetics of amyotrophic lateral sclerosis. Curr Opin Neurol. 2024;37(5):560-569. DOI: 10.1097/ WCO.0000000000001294 [17]Cappella M, et al. Gene therapy for ALS—a perspective. Int J Mol Sci. 2019;20(18):4388. DOI: 10.3390/ijms20184388. [18]Corcia P, et al. Therapeutic news in ALS. Rev Neurol. 2021;177(5):544-549.DOI: 10.1016/ /j.neurol.2020.12.003. [19] Adamczyk, Anna, Magdalena Kwiatkowska, and Iwona Filipczak-Bryniarska. "Polish Association for Palliative Medicine stand on qualification for palliative care and management of patients with amyotrophic lateral sclerosis and multiple sclerosis." Medycyna Paliatywna/Palliative Medicine 10.3 (2018): 115-130. [20] Ortega-Hombrados, Laura, et al. "Systematic review of therapeutic physical exercise in patients with amyotrophic lateral sclerosis over time." International journal of environmental research and public health 18.3 (2021): 1074. DOI:10.3390/ijerph18031074 [21] Meng L, et al. Effects of exercise in patients with amyotrophic lateral sclerosis: a systematic review and meta-analysis. Am J Phys Med Rehabil. 2020;99(9):801-810. DOI: 10.1097/PHM.0000000000001419 [22]Van Es MA, et al. Amyotrophic lateral sclerosis. Lancet. 2017;390(10107):2084-2098. DOI: 10.1016/ S0140-6736(17)31287-4. [23] Jiménez-García AM, et al. Current perspectives on neuromodulation in ALS patients: A systematic review and meta-analysis. PLoS One. 2024;19(3):e0300671. DOI: 10.1371/journal.pone.0300671. eCollection 2024 [24] Sever B, et al. Comprehensive research on past and future therapeutic strategies devoted to treatment of amyotrophic lateral sclerosis. International journal of molecular sciences, 2022, 23.5: 2400. DOI: 10.3390/ijms23052400 [25]Duan W, et al. The deletion of mutant SOD1 via CRISPR/Cas9/sgRNA prolongs survival in an amyotrophic lateral sclerosis mouse model. Gene Ther. 2020;27(3):157-169. DOI: 10.1038/ s41434-019-0116-1. [26] Sreedharan J, Brown RH Jr. Amyotrophic lateral sclerosis: problems and prospects. Ann Neurol. 2013;74(3):309-316. DOI: 10.1002/ana.24012 [27] NGUYEN, Lien. Updates on disease mechanisms and therapeutics for amyotrophic lateral sclerosis. Cells, 2024, 13.11: 888. DOI: 10.3390/cells13110888 [28] Mazzini L, et al. Stem cells therapy for ALS. Expert Opin Biol Ther. 2016;16(2):187-199. DOI: 10.1517/ 14712598.2016.1116516. [29] Liddelow S, Barres B. SnapShot: astrocytes in health and disease. Cell. 2015;162(5):1170. DOI: 10.1016/j.cell.2015.08.029 [30] Meyer K, et al. Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS. Proc Natl Acad Sci USA. 2014;111(2):829-832. DOI: 10.1073/ pnas.1314085111

[31] Beghi E, Mennini T, Italian Network for the Study of Motor Neuron Disease. Basic and clinical research on amyotrophic lateral sclerosis and other motor neuron disorders in Italy: recent findings and achievements from a network of laboratories. Neurol Sci. 2004;25:s41-s60. DOI: 10.1007/s10072-004-0228-1

[32] Varciana A, et al. Micro-RNAs secreted through astrocyte-derived extracellular vesicles cause neuronal network degeneration in C9orf72 ALS. EBioMedicine. 2019;40:626-635. DOI: 10.1016/ j.ebiom.2018.11.067

[33] Chiò A, et al. The multistep hypothesis of ALS revisited: the role of genetic mutations. Neurology. 2018;91(7):e635-e642. DOI: 10.1212/ WNL.0000000000005996 [34]Reddy LV, Miller TM. RNA-targeted therapeutics for ALS. Neurotherapeutics. 2015;12(2):424-427 DOI: 10.1007/s13311-015-0344-z [35] Brambilla, Liliana, et al. "Disruption of the astrocytic TNFR1-GDNF axis accelerates motor neuron degeneration and disease progression in amyotrophic lateral sclerosis." Human Molecular Genetics 25.14 (2016): 3080-3095. DOI: 10.1093/ hmg/ddw161

Journal of Education, Health and Sport

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Published

2025-06-19

How to Cite

1.
OŻÓG, Weronika, BOROWSKA-ŁYGAN, Martyna, GRZECH, Patrycja, KRECZYŃSKA, Lena, BANACH, Aleksandra, ZUBRZYCKA, Weronika, PISKOROWSKA, Klaudia and HARNICKI, Patryk. An Advancements In Treatment Of Amyotrophic Lateral Sclerosis (ALS): Symptoms, causes, gene theraphy. Literature review. Journal of Education, Health and Sport. Online. 19 June 2025. Vol. 82, p. 60449. [Accessed 29 June 2025]. DOI 10.12775/JEHS.2025.82.60449.
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Vol. 82 (2025)

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Copyright (c) 2025 Weronika Ożóg, Martyna Borowska-Łygan, Patrycja Grzech, Lena Kreczyńska, Aleksandra Banach, Weronika Zubrzycka, Klaudia Piskorowska, Patryk Harnicki

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