Advances and new treatments are available for neuromuscular disorders and affect Quality of Life: Difference between revisions
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===Conflict of Interest=== | ===Conflict of Interest=== | ||
The Author declares that there is no conflict of interest | The Author declares that there is no conflict of interest | ||
==References == | |||
<ol class="references"> | |||
<li>1. Margeta M. (2023), Neuromuscular disease:2023 update.Free Neuropathology 4:2 (2023 doi: https://doi.org/10.17879/freeneuropathology-2023-4682</li> | |||
<li>2.Angelini C (2011) Clin Drug Investig. Diagnosis and management of autoimmune myasthenia gravis.31(1):1-14. Doi: 10.2165/11584740-000000000-00000.</li> | |||
<li>3. Parente V, Corti S. (2018) Advances in spinal muscular atrophy therapeutics.Ther Adv Neurol Disord. 5;11:1756285618754501. doi: 10.1177/1756285618754501. eCollection 2018.</li> | |||
<li>4. Mercuri E, Deconinck N, Mazzone ES, Nascimento A, Oskoui M, Saito K, Vuillerot C, Baranello G, Boespflug-Tanguy O, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Staunton H, Yeung WY, Martin C, Fontoura P, Day JW; SUNFISH Study Group(2022) Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomized, placebo-controlled trial. | |||
Lancet Neurol. ;21(1):42-52. doi: 10.1016/S1474-4422(21)00367-7.PMID: 34942136</li> | |||
<li>5.Orcesi S, Ariaudo G, Mercuri E, Beghi E, Rezzani C, Balottin U; SOLE NMDs Study Group (2014).A new self-report quality of life questionnaire for children with neuromuscular disorders: presentation of the instrument, rationale for its development, and some preliminary results. J Child Neurol. Feb;29(2):167-81. doi: 10.1177/0883073813511859. Epub 2013 Dec 18. PMID: 24352162</li> | |||
<li>6. Magliano, M; Patalano,M.; Scutifero M; et al.(2015)Burden, professional support, and social network in families of children and young adults with muscular dystrophies.Muscle&Nerve 52:13–21.</li> | |||
<li>7. Bonifati, D.M.; Witchel, S.F.; Ermani, M.; Hoffman, E.P.; Angelini, C.; Pegoraro, E.(2006) The glucocorticoid receptor N363S polymorphism and steroid response in Duchenne dystrophy. J. Neurol. Neurosurg. Psychiatry, 77, 1177–1179.</li> | |||
<li>8. Angelini, C.; Pegoraro, E.; Turella, E.; Intino, M.T.; Pini, A.; Costa, C.(1994) Deflazacort in Duchenne dystrophy: Study of long-term effect. Muscle Nerve 17, 386–391.</li> | |||
<li>9. Guglieri M., Bushby K, McDermott M.P, Hart K.A, Tawil R.,et al.(2022) | |||
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA 19;327(15):1456-1468. | |||
doi: 10.1001/jama.2022.4315.</li> | |||
<li>10. Smith, E.C.; Conklin, L.S.; Hoffman, E.P.; Clemens, P.R.; Mah, J.K.; Finkel, R.S.; Guglieri, M.; Tulinius, M.; Nevo, Y.; Ryan, M.M.; et al.(2020) Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension study.PLoS Med. , 17, e1003222.</li> | |||
<li>11.Guglieri, M.; Clemens, P.R.; Perlman, S.J.; Smith, E.C.; Horrocks, I.; Finkel, R.S.; Mah, J.K.; Deconinck, N.; Goemans, N.; Haberlova, J.; et al.(2022) Efficacy and Safety of Vamorolone vs Placebo and Prednisone among Boys with Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA Neurol., 79, 1005–1014.</li> | |||
<li>12. Bushby, K, Finkel R, Wong B, FOR THE PTC124-GD-007-DMD STUDY GROUP (2015) Ataluren treatment of patients with nonsense mutation dystrophinopathy Muscle &Nerve,50, 4,477- 487.</li> | |||
<li>13. Angelini, C, Marozzo R, Pegoraro V (2019) Current and emergent therapies in Becker Muscular Dystrophy (BMD)Acta Myol. , 1;38(3):172-179. | |||
https://mc03.manuscriptcentral.com/jerp</li> | |||
<li>14. Schoser B, Stewart A, Kanters S, et al (2017) Survival and long-term outcome in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis. J Neurol. ;264 (4):621–630.</li> | |||
<li>15. Pena, L.D.M.; Barohn, R.J.; Byrne, B.J.; Desnuelle, C.; Goker-Alpan, O.; Ladha, S.; Laforêt, P.; Mengel, K.E.; Pestronk, A.; Pouget, J.; et al (2019) Safety, tolerability, pharmacokinetic pharmacodynamics and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe Disease: A phase 1, open-label, multicenter, multinational, ascending dose study. Neuromuscul. Disord. , 29, 167–186.</li> | |||
<li>16. Dimachkie, M.M.; Barohn, R.J.; Byrne, B.; Goker-Alpan, O.; Kishnani, P.S.; Ladha, S.; Laforêt, P.; Mengel, K.E.; Pena, L.D.; Sacconi, S.; et al.(2020) NEO1 and NEO-EXT studies: Long-term safety and exploratory efficacy of repeat avalglucosidase alfa dosing for 5.5 years in late-onset Pompe disease patients. Mol. Genet. Metab. , 129, S49.</li> | |||
<li>17. Dimachkie, M.M., Barohn, R.J, Byrne, B. et al (2022) Long-term Safety and Efficacy of Avalglucosidase Alfa in patients With Late-Onset Pompe Disease Neurology;99:e536-e548. doi:10.1212/WNL.0000000000200746</li> | |||
<li>18. Diaz-Manera, J.; Kishnani, P.S.; Kushlaf, H.; Ladha, S.; Mozaffar, T.; Straub, V.; Toscano, A.; van der Ploeg, A.T.; Berger, K.I.; Clemens, P.R.; et al (2021) Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): A phase 3, | |||
randomized, multicentre trial. Lancet Neurol. 20, 1012–1026.</li> | |||
<li>19. Kishnani P, Diaz Manera J, Toscano A, et al (2023) Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial JAMA Neurol;80(6):558-567.doi: 10.1001/jamaneurol.2023.0552.</li> | |||
<li>20. Parenti, G.; Fecarotta, S.; la Marca, G.; Rossi, B.; Ascione, S.; Donati, M.A.; Morandi, L.O.; Ravaglia, S.; Pichiecchio, A.; Ombrone, D.; et al. (2014) A Chaperone Enhances Blood - Glucosidase Activity in Pompe Disease Patients Treated with Enzyme Replacement Therapy. Mol. Ther., 22, 2004–2012.</li> | |||
<li>21. Schoser, B.; Roberts, M.; Byrne, B.J.; Sitaraman, S.; Jiang, H.; Laforêt, P.; Toscano, A.; Castelli, J.; Díaz-Manera, J.; Goldman, M.; et al (2021) Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): An international, randomized, double-blind, parallel-group, phase 3 trial. Lancet Neurol. , 20, 1027–103</li> | |||
<li>22. Angelini, C (2021) Exercise, nutrition, and enzyme replacement therapy are efficacious in adult Pompe patients: report from EPOC Consortium Eur J Transl Myol 3;31(2):9798.doi: 10.4081/ejtm.2021.9798.</li> | |||
<li>23. Murai H, Utsugisawa K, Motomura M, Imai T, Uzawa A, Suzuki S. (2023) The Japanese clinical guidelines (2022) for myasthenia gravis and Lambert–Eaton myasthenic syndrome. Clinical and Experimental Neuroimmunology 14:19-27 https://doi.org/10.1111/cen3.12739</li> | |||
<li>24. Bonifati DM, Angelini C (1997) Long-term cyclosporine treatment in a group of severe myasthenia gravis patients. J Neurol. ;244(9):542-7. doi: 10.1007/s004150050141.</li> | |||
<li>25. Howard JF Jr, Utsugisawa K, Benatar M, Murai H, Barohn RJ, Illa I, Jacob S, Vissing J, Burns TM, Kissel JT, Muppidi S, Nowak RJ; Brien F, Wang JJ, Mantegazza R; REGAIN Study Group. (2017). Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalized myasthenia gravis (REGAIN): a phase 3, randomized, double-blind, placebo-controlled, multicenter study.Lancet Neurol. Dec;16(12):976-986.</li> | |||
<li>26. Mantegazza R, Wolf G, Muppidi S, Wiendl H, Fujita PK; Brien LF, Booth EDH, Howard F Jr, REGAIN Study Group (2021) Post-intervention status in patients with refractory myasthenia gravis treated with eculizumab during REGAIN and its open-label extension. Neurology 96:e610- | |||
618 https://doi.org/10.1212/WNL.0000000000011207</li> | |||
<li>27. Young-A Heo (2023) Efgartigimod Alfa in Generalised Myasthenia Gravis: A Profile of Its Use CNS Drugs.; 37(5): 467–473.</li> | |||
<li>28. van de Loo, K.F,van Zeijl, N.T.,. Custers, J.A.E, Janssen M.C., Verhaak A C.M.(2022) conceptual disease model for quality of life in mitochondrial disease.Orphanet Journal of Rare Diseases volume 17, : 263</li> | |||
<li>29. Mancuso M., Angelini C, Bertini E, et al. (2012)Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases,Neuromuscul Disord 22 Suppl 3(3-3):S226-9.doi: 10.1016/j.nmd.2012.10.012.</li> | |||
<li>30. De Miguel,M.(2023)ARCUS gene editing tool repairs pathological mitochondrial DNA. Dec. 18.Bioword science.</li> | |||
</ol> | |||
[[Category:Open Access]] | [[Category:Open Access]] | ||
[[Category:Review]] | [[Category:Review]] | ||
[[Category:Neurosciences & Psychology]] | [[Category:Neurosciences & Psychology]] |
Revision as of 09:52, 22 March 2024
Published |
January 4, 2024 |
Title |
Advances and new treatments are available for neuromuscular disorders and affect Quality of Life |
Author |
Corrado Angelini |
DOI |
10.62684/AHFH7253 |
Keywords |
deflazacort, vamorolone, acid alpha-glucosidase deficiency; enzyme replacement therapy; myasthenia gravis, cyclosporin, eculizumab, mitochondria |
Downloads |
Campus Pietro d'Abano, Department Neurosciences, University of Padova.
Abstract
Advances over the past two decades in the field of neuromuscular disorders have transformed the treatment landscape, bringing more genetic testing for screening, better laboratory analyses, new innovative therapies that target specific disease pathways and mechanisms, and a multidisciplinary approach to care.
These advancements have led to more precise diagnoses and advances in the management of neuromuscular conditions, which can be life-altering for patients. This review examines how the emergence of new therapies impacts the quality of life (QoL) of parents and children with Duchenne muscular dystrophy and patients with late-onset glycogenosis type 2.
Myasthenia Gravis (MG) is the most common neuromuscular transmission disorder. Despite the existence of few refractory cases, the goal of treatment is the complete remission of symptoms, achieved by thymectomy, immunosuppression, IVIG, or monoclonal antibody. Advances over the past two decades have been substantial both in mitochondrial disorders and for.MG patients that are benefitting from an expansion of treatments since more therapies are available.
Declarations
Conflict of Interest
The Author declares that there is no conflict of interest
References
- 1. Margeta M. (2023), Neuromuscular disease:2023 update.Free Neuropathology 4:2 (2023 doi: https://doi.org/10.17879/freeneuropathology-2023-4682
- 2.Angelini C (2011) Clin Drug Investig. Diagnosis and management of autoimmune myasthenia gravis.31(1):1-14. Doi: 10.2165/11584740-000000000-00000.
- 3. Parente V, Corti S. (2018) Advances in spinal muscular atrophy therapeutics.Ther Adv Neurol Disord. 5;11:1756285618754501. doi: 10.1177/1756285618754501. eCollection 2018.
- 4. Mercuri E, Deconinck N, Mazzone ES, Nascimento A, Oskoui M, Saito K, Vuillerot C, Baranello G, Boespflug-Tanguy O, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Staunton H, Yeung WY, Martin C, Fontoura P, Day JW; SUNFISH Study Group(2022) Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomized, placebo-controlled trial. Lancet Neurol. ;21(1):42-52. doi: 10.1016/S1474-4422(21)00367-7.PMID: 34942136
- 5.Orcesi S, Ariaudo G, Mercuri E, Beghi E, Rezzani C, Balottin U; SOLE NMDs Study Group (2014).A new self-report quality of life questionnaire for children with neuromuscular disorders: presentation of the instrument, rationale for its development, and some preliminary results. J Child Neurol. Feb;29(2):167-81. doi: 10.1177/0883073813511859. Epub 2013 Dec 18. PMID: 24352162
- 6. Magliano, M; Patalano,M.; Scutifero M; et al.(2015)Burden, professional support, and social network in families of children and young adults with muscular dystrophies.Muscle&Nerve 52:13–21.
- 7. Bonifati, D.M.; Witchel, S.F.; Ermani, M.; Hoffman, E.P.; Angelini, C.; Pegoraro, E.(2006) The glucocorticoid receptor N363S polymorphism and steroid response in Duchenne dystrophy. J. Neurol. Neurosurg. Psychiatry, 77, 1177–1179.
- 8. Angelini, C.; Pegoraro, E.; Turella, E.; Intino, M.T.; Pini, A.; Costa, C.(1994) Deflazacort in Duchenne dystrophy: Study of long-term effect. Muscle Nerve 17, 386–391.
- 9. Guglieri M., Bushby K, McDermott M.P, Hart K.A, Tawil R.,et al.(2022) Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA 19;327(15):1456-1468. doi: 10.1001/jama.2022.4315.
- 10. Smith, E.C.; Conklin, L.S.; Hoffman, E.P.; Clemens, P.R.; Mah, J.K.; Finkel, R.S.; Guglieri, M.; Tulinius, M.; Nevo, Y.; Ryan, M.M.; et al.(2020) Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension study.PLoS Med. , 17, e1003222.
- 11.Guglieri, M.; Clemens, P.R.; Perlman, S.J.; Smith, E.C.; Horrocks, I.; Finkel, R.S.; Mah, J.K.; Deconinck, N.; Goemans, N.; Haberlova, J.; et al.(2022) Efficacy and Safety of Vamorolone vs Placebo and Prednisone among Boys with Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA Neurol., 79, 1005–1014.
- 12. Bushby, K, Finkel R, Wong B, FOR THE PTC124-GD-007-DMD STUDY GROUP (2015) Ataluren treatment of patients with nonsense mutation dystrophinopathy Muscle &Nerve,50, 4,477- 487.
- 13. Angelini, C, Marozzo R, Pegoraro V (2019) Current and emergent therapies in Becker Muscular Dystrophy (BMD)Acta Myol. , 1;38(3):172-179. https://mc03.manuscriptcentral.com/jerp
- 14. Schoser B, Stewart A, Kanters S, et al (2017) Survival and long-term outcome in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis. J Neurol. ;264 (4):621–630.
- 15. Pena, L.D.M.; Barohn, R.J.; Byrne, B.J.; Desnuelle, C.; Goker-Alpan, O.; Ladha, S.; Laforêt, P.; Mengel, K.E.; Pestronk, A.; Pouget, J.; et al (2019) Safety, tolerability, pharmacokinetic pharmacodynamics and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe Disease: A phase 1, open-label, multicenter, multinational, ascending dose study. Neuromuscul. Disord. , 29, 167–186.
- 16. Dimachkie, M.M.; Barohn, R.J.; Byrne, B.; Goker-Alpan, O.; Kishnani, P.S.; Ladha, S.; Laforêt, P.; Mengel, K.E.; Pena, L.D.; Sacconi, S.; et al.(2020) NEO1 and NEO-EXT studies: Long-term safety and exploratory efficacy of repeat avalglucosidase alfa dosing for 5.5 years in late-onset Pompe disease patients. Mol. Genet. Metab. , 129, S49.
- 17. Dimachkie, M.M., Barohn, R.J, Byrne, B. et al (2022) Long-term Safety and Efficacy of Avalglucosidase Alfa in patients With Late-Onset Pompe Disease Neurology;99:e536-e548. doi:10.1212/WNL.0000000000200746
- 18. Diaz-Manera, J.; Kishnani, P.S.; Kushlaf, H.; Ladha, S.; Mozaffar, T.; Straub, V.; Toscano, A.; van der Ploeg, A.T.; Berger, K.I.; Clemens, P.R.; et al (2021) Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): A phase 3, randomized, multicentre trial. Lancet Neurol. 20, 1012–1026.
- 19. Kishnani P, Diaz Manera J, Toscano A, et al (2023) Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial JAMA Neurol;80(6):558-567.doi: 10.1001/jamaneurol.2023.0552.
- 20. Parenti, G.; Fecarotta, S.; la Marca, G.; Rossi, B.; Ascione, S.; Donati, M.A.; Morandi, L.O.; Ravaglia, S.; Pichiecchio, A.; Ombrone, D.; et al. (2014) A Chaperone Enhances Blood - Glucosidase Activity in Pompe Disease Patients Treated with Enzyme Replacement Therapy. Mol. Ther., 22, 2004–2012.
- 21. Schoser, B.; Roberts, M.; Byrne, B.J.; Sitaraman, S.; Jiang, H.; Laforêt, P.; Toscano, A.; Castelli, J.; Díaz-Manera, J.; Goldman, M.; et al (2021) Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): An international, randomized, double-blind, parallel-group, phase 3 trial. Lancet Neurol. , 20, 1027–103
- 22. Angelini, C (2021) Exercise, nutrition, and enzyme replacement therapy are efficacious in adult Pompe patients: report from EPOC Consortium Eur J Transl Myol 3;31(2):9798.doi: 10.4081/ejtm.2021.9798.
- 23. Murai H, Utsugisawa K, Motomura M, Imai T, Uzawa A, Suzuki S. (2023) The Japanese clinical guidelines (2022) for myasthenia gravis and Lambert–Eaton myasthenic syndrome. Clinical and Experimental Neuroimmunology 14:19-27 https://doi.org/10.1111/cen3.12739
- 24. Bonifati DM, Angelini C (1997) Long-term cyclosporine treatment in a group of severe myasthenia gravis patients. J Neurol. ;244(9):542-7. doi: 10.1007/s004150050141.
- 25. Howard JF Jr, Utsugisawa K, Benatar M, Murai H, Barohn RJ, Illa I, Jacob S, Vissing J, Burns TM, Kissel JT, Muppidi S, Nowak RJ; Brien F, Wang JJ, Mantegazza R; REGAIN Study Group. (2017). Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalized myasthenia gravis (REGAIN): a phase 3, randomized, double-blind, placebo-controlled, multicenter study.Lancet Neurol. Dec;16(12):976-986.
- 26. Mantegazza R, Wolf G, Muppidi S, Wiendl H, Fujita PK; Brien LF, Booth EDH, Howard F Jr, REGAIN Study Group (2021) Post-intervention status in patients with refractory myasthenia gravis treated with eculizumab during REGAIN and its open-label extension. Neurology 96:e610- 618 https://doi.org/10.1212/WNL.0000000000011207
- 27. Young-A Heo (2023) Efgartigimod Alfa in Generalised Myasthenia Gravis: A Profile of Its Use CNS Drugs.; 37(5): 467–473.
- 28. van de Loo, K.F,van Zeijl, N.T.,. Custers, J.A.E, Janssen M.C., Verhaak A C.M.(2022) conceptual disease model for quality of life in mitochondrial disease.Orphanet Journal of Rare Diseases volume 17, : 263
- 29. Mancuso M., Angelini C, Bertini E, et al. (2012)Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases,Neuromuscul Disord 22 Suppl 3(3-3):S226-9.doi: 10.1016/j.nmd.2012.10.012.
- 30. De Miguel,M.(2023)ARCUS gene editing tool repairs pathological mitochondrial DNA. Dec. 18.Bioword science.