Time for optimism in amyotrophic lateral sclerosis.
SOD1-C9orf72
amyotrophic lateral sclerosis
genetics
neurofilaments
Journal
European journal of neurology
ISSN: 1468-1331
Titre abrégé: Eur J Neurol
Pays: England
ID NLM: 9506311
Informations de publication
Date de publication:
05 2023
05 2023
Historique:
revised:
15
01
2023
received:
04
12
2022
accepted:
02
02
2023
medline:
6
4
2023
pubmed:
12
2
2023
entrez:
11
2
2023
Statut:
ppublish
Résumé
Amyotrophic lateral sclerosis (ALS) is among the most common motor neuron diseases in adults. Nevertheless, ALS remains fatal, despite decades of research and clinical trials, which has led to negative conclusions until recently in regard to four specific treatments. It is well known that we can learn from failures, and we consider that the time has come to present positive insight on this disease. We did a literature search using PubMed and Scopus for articles published in English from 1 January 2016, to 30 June 2022 dealing with "amyotrophic lateral sclerosis", diagnosis, treatment, and biomarkers. A comprehensive review of the literature on diagnosis, monitoring, and treatment of this condition showed convincing evidence that we are now able to diagnose earlier as well as to better monitor and treat ALS. Although ALS is often difficult to diagnose and remains incurable, there are many indications that an optimistic view of ALS management in the coming years is now realistic.
Sections du résumé
BACKGROUND AND PURPOSE
Amyotrophic lateral sclerosis (ALS) is among the most common motor neuron diseases in adults. Nevertheless, ALS remains fatal, despite decades of research and clinical trials, which has led to negative conclusions until recently in regard to four specific treatments. It is well known that we can learn from failures, and we consider that the time has come to present positive insight on this disease.
METHODS
We did a literature search using PubMed and Scopus for articles published in English from 1 January 2016, to 30 June 2022 dealing with "amyotrophic lateral sclerosis", diagnosis, treatment, and biomarkers.
RESULTS
A comprehensive review of the literature on diagnosis, monitoring, and treatment of this condition showed convincing evidence that we are now able to diagnose earlier as well as to better monitor and treat ALS.
CONCLUSIONS
Although ALS is often difficult to diagnose and remains incurable, there are many indications that an optimistic view of ALS management in the coming years is now realistic.
Substances chimiques
Biomarkers
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1459-1464Informations de copyright
© 2023 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.
Références
van Es MA, Hardiman O, Chió A, et al. Amyotrophic lateral sclerosis. Lancet. 2017;390:2084-2098.
Swinnen B. Robberecht W the phenotypic variability of amyotrophic lateral sclerosis. Nat Rev Neurol. 2014;10:661-670.
Goutman SA, Hardiman O, Al-Chalabi A, et al. Emerging insights into the complex genetics and pathophysiology of amyotrophic lateral sclerosis. Lancet Neurol. 2022;21:465-479.
Chió A, Calvo A, Moglia C, Mazzini L, Mora G, PARALS study group. Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population-based study. J Neurol Neurosurg Psychiatry. 2011;82:740-746.
Kliest T, Van Eijk RPA, Al-Chalabi A, Albanese A, Andersen PM, del Mar AM. Clinical trials in pediatric ALS: a TRICALS feasibility study. Amyotroph Lateral Scler Frontotemporal Degener. 2022;23:1-8.
Chang MC, Kwak SG, Park JM, Park D, Park JS. Clinical and electrophysiological characteristics of respiratory onset amyotrophic lateral sclerosis: a single-Centre study. Acta Neurol Belg. 2022;01936-x.
Strong MJ, Abrahams S, Goldstein LH, et al. Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): revised diagnostic criteria. Amyotroph Lateral Scler Frontotemporal Degener. 2017;18:153-174.
Kimura F, Fujimura C, Ishida S, et al. Progression rate of ALSFRS-R at time of diagnosis predicts survival time in ALS. Neurology. 2006;66:265-267.
Longinetti E, Fang F. Epidemiology of amyotrophic lateral sclerosis: an update of recent literature. Curr Opin Neurol. 2019;32:771-776.
Rosen DR, Siddique T, Patterson D, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993;362:59-62.
Camu W, Khoris J, Moulard B, et al. Genetics of familial ALS and consequences for diagnosis. J Neurol Sci. 1999;165:S21-S26. 165 Suppl 1.
Renton AE, Traynor BJ. State of play in amyotrophic lateral sclerosis genetics. Nat Neurosci. 2014;17:17-23.
Corcia P, Beltran S, Bakkouche SE, Couratier P. Therapeutic news in ALS. Rev Neurol. 2021;177:544-549.
Heo YA. Sodium phenylbutyrate and Ursodoxicoltaurine: first approval. CNS Drugs. 2022;36:1007-1013. doi:10.1007/s40263-022-0095-x
Miller T, Cudkowicz M, Shaw PJ, et al. Phase 1-2 trial of antisense oligonucleotide Tofersen for SOD1 ALS. N Engl J Med. 2020;383:109-119.
Brooks BR, Miller RG, Swash M, Munsat TL. World federation of Neurology Research group on motor neuron diseases. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000;1:293-299.
de Carvalho M, Swash M. Awaji diagnostic algorithm increases sensitivity of El Escorial criteria for ALS diagnosis. Amyotroph Lateral Scler. 2009;10:53-57.
Hannaford A, Pavey N, van den Bos M, et al. Diagnostic utility of Gold Coast criteria in amyotrophic lateral sclerosis. Ann Neurol. 2021;89:979-986.
Halbgebauer S, Steinacker P, Verde F, et al. Comparison of CSF and serum neurofilament light and heavy chain as differential diagnostic biomarkers for ALS. J Neurol Neurosurg Psychiatry. 2022;93:68-74.
Falzone YM, Domi T, Mandelli A, et al. Integrated evaluation of a panel of neurochemical biomarkers to optimize diagnosis and prognosis in amyotrophic lateral sclerosis. Eur J Neurol. 2022;29:1930-1939.
Bede P, Querin G, Pradat PF. The changing landscape of motor neuron disease imaging: the transition from descriptive studies to precision clinical tools. Curr Opin Neurol. 2018;31(4):431-438. doi:10.1097/WCO.0000000000000569 PMID: 29750730.
Bede P, Murad A, Hardiman O. Pathological neural networks and artificial neural networks in ALS: diagnostic classification based on pathognomonic neuroimaging features. J Neurol. 2022;269:2440-2452.
Querin G, Bede P, El Mendili MM, et al. Predict to prevent frontotemporal lobar degeneration and amyotrophic lateral sclerosis study group. Presymptomatic spinal cord pathology in c9orf72 mutation carriers: a longitudinal neuroimaging study. Ann Neurol. 2019;86:158-167.
De Vocht J, Blommaert J, Devrome M, et al. Use of multimodal imaging and clinical biomarkers in Presymptomatic carriers of C9orf72 repeat expansion. JAMA Neurol. 2020;77(8):1008-1017. doi:10.1001/jamaneurol.2020.1087
Mitsumoto H, Brooks BR, Silani V. Clinical trials in amyotrophic lateral sclerosis: why so many negative trials and how can trials be improved? Lancet Neurol. 2014;13:1127-1138.
VALOR study and its open-label extension evaluating the clinical efficacy and safety of Tofersen in adults with ALS and confirmed SOD1 mutation. American Neurological Association Annual Meeting; October 17-19, 2021.
Benatar M, Wuu J, Andersen PM, et al. Design of a Randomized, placebo-controlled, phase 3 trial of Tofersen initiated in clinically Presymptomatic SOD1 variant carriers: the ATLAS study. Neurotherapeutics. 2022;19:1248-1258.
Benatar M, Wuu J, Andersen PM, Lombardi V, Malaspina A. Neurofilament light: a candidate biomarker of presymptomatic amyotrophic lateral sclerosis and phenoconversion. Ann Neurol. 2018;84:130-139.
Amado D, Davidson B. Gene therapy for ALS: a review. Mol Ther. 2021;29:3345-3358.
Middleton G, Robbins H, Andre F, Swanton C. A state-of-the-art review of stratified medicine in cancer: towards a future precision medicine strategy in cancer. Ann Oncol. 2022;33:143-157.
van Eijk RPA, Eijkemans MJC, Nikolakopoulos S, et al. Pharmacogenetic interactions in amyotrophic lateral sclerosis: a step closer to a cure? Pharmacogenomics J. 2020;20:220-226.
Willemse SW, Roes KCB, Van Damme P, et al. Lithium carbonate in amyotrophic lateral sclerosis patients homozygous for the C-allele at SNP rs12608932 in UNC13A: protocol for a confirmatory, randomized, group-sequential, event-driven, double-blind, placebo-controlled trial. Trials. 2022;23(1):978. doi:10.1186/s13063-022-06906-5
Marin B, Desport JC, Kajeu P, et al. Alteration of nutritional status at diagnosis is a prognostic factor for survival of amyotrophic lateral sclerosis patients. J Neurol Neurosurg Psychiatry. 2011;82:628-634.
Grollemund V, Le Chat G, Secchi-Buhour MS, et al. Manifold learning for amyotrophic lateral sclerosis functional loss assessment: development and validation of a prognosis model. J Neurol. 2021;26:825-850.
Grollemund V, Chat GL, Secchi-Buhour MS, et al. Development and validation of a 1-year survival prognosis estimation model for amyotrophic lateral sclerosis using manifold learning algorithm UMAP. Sci Rep. 2020;10:13378. doi:10.1038/s41598-020-
Faghri F, Brunn F, Dadu A, PARALS consortium, ERRALS consortium, Zucchi E, et al. Identiying and predicting amyotrophic lateral sclerosis clinical subgroups: a population-based machine-learning study. Lancet Digit Health. 2022;4(5):e359-e369. doi:10.1016/S2589-7500(21)00274-0.Epub 2022 Mar 24.
Witzel S, Frauhammer F, Steinacker P, et al. Neurofilament light and heterogeneity of disease progression in amyotrophic lateral sclerosis: development and validation of a prediction model to improve interventional trials. Transl Neurodegener. 2021;10(1):31. doi:10.1186/s40035-021-00257-y Neurofilament light and heterogeneity of disease progression in amyotrophic lateral sclerosis: development and validation of a prediction model to improve interventional trials.
Querin G, El Mendili MM, Bede P, et al. Multimodal spinal cord MRI offers accurate diagnostic classification in ALS. J Neurol Neurosurg Psychiatry. 2018;89:1220-1221.
Bede P, Murad A, Lope J, et al. Phenotypic categorisation of individual subjects with motor neuron disease based on radiological disease burden patterns: a machine-learning approach. J Neurol Sci. 2022;15(432):120079. doi:10.1016/j.jns.2021.120079
Westeneng HJ, Debray T, Visser AE, et al. Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalized prediction model. Lancet Neurol. 2018;17:423-433.
EFNS Task Force on Diagnosis and Management of Amyotrophic Lateral Sclerosis, Andersen PM, Abrahams S, et al. EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. Eur J Neurol. 2012;19:360-375. EFNS guidelines on the Clinical Management of Amyotrophic Lateral Sclerosis (MALS) - revised report of an EFNS task force.
Pugliese R, Sala R, Regondi S, Beltrami B, Lunetta C. Emerging technologies for management of patients with amyotrophic lateral sclerosis: from telehealth to assistive robotics and neural interfaces. J Neurol. 2022;269:2910-2921. doi:10.1007/s00415-022-10971