Current treatments of spinal muscular atrophy in adults

Revue Neurologique - Tập 179 - Trang 106-113 - 2023
P. Cintas1
1Service de neurologie, CHU de Toulouse Purpan, centre de référence de pathologie neuromusculaire, place du Docteur Baylac TSA 40031, 31059 Toulouse cedex 9, France

Tài liệu tham khảo

Lunn, 2008, Spinal muscular atrophy, Lancet., 371, 2120, 10.1016/S0140-6736(08)60921-6 Melki, 1994, De novo and inherited deletions of the 5q13 region in spinal muscular atrophies, Science., 264, 1474, 10.1126/science.7910982 Bürglen, 1996, Structure and organization of the human survival motor neurone (SMN) gene, Genomics., 32, 479, 10.1006/geno.1996.0147 Mailman, 2002, Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2, Genet Med., 4, 20, 10.1097/00125817-200201000-00004 Finkel, 2017, Nusinersen versus Sham control in infantile-onset spinal muscular atrophy, N Engl J Med., 377, 1723, 10.1056/NEJMoa1702752 Mercuri, 2018, Nusinersen versus sham control in later-onset spinal muscular atrophy, N Engl J Med., 378, 625, 10.1056/NEJMoa1710504 Wijngaarde, 2020, Muscle strength and motor function in adolescents and adults with spinal muscular atrophy. Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes, Neurology., 95, e1988, 10.1212/WNL.0000000000010540 Montes, 2018, Ambulatory function in spinal muscular atrophy: age-related patterns of progression, PLoS One., 13, e0199657, 10.1371/journal.pone.0199657 Coratti, 2022, Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes, Neuromuscul Disord., 32, 36, 10.1016/j.nmd.2021.10.009 Rouault, 2017, Disease impact on general well-being and therapeutic expectations of European type II and type III spinal muscular atrophy patients, Neuromuscul Disord., 27, 428, 10.1016/j.nmd.2017.01.018 Gusset, 2021, Understanding European patient expectations towards current therapeutic development in spinal muscular atrophy, Neuromuscul Disord., 31, 419, 10.1016/j.nmd.2021.01.012 Osmanovic, 2020, Treatment expectations and patient-reported outcomes of nusinersen therapy in adult spinal muscular atrophy, J Neurol., 267, 2398, 10.1007/s00415-020-09847-8 Meyer, 2021, Treatment expectations and perception of therapy in adult patients with spinal muscular atrophy receiving nusinersen, Eur J Neurol., 28, 2582, 10.1111/ene.14902 Lefeuvre, 2022, Nusinersen treatment in adults with severe spinal muscular atrophy: a real-life retrospective observational cohort study, Rev Neurol (Paris)., 178, 234, 10.1016/j.neurol.2021.10.010 Wirth, 2021, Spinal muscular atrophy: in the challenge lies a solution, Trends Neurosci., 44, 306, 10.1016/j.tins.2020.11.009 Singh, 2006, Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron, Mol Cell Biol., 26, 1333, 10.1128/MCB.26.4.1333-1346.2006 Hagenacker, 2020, Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study, Lancet Neurol., 19, 317, 10.1016/S1474-4422(20)30037-5 De Wel, 2021, Nusinersen treatment significantly improves hand grip strength, hand motor function and MRC sum scores in adult patients with spinal muscular atrophy types 3 and 4, J Neurol., 268, 923, 10.1007/s00415-020-10223-9 Maggi, 2020, Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3, J Neurol Neurosurg Psychiatry., 91, 1166, 10.1136/jnnp-2020-323822 Pera, 2021, Nusinersen in pediatric and adult patients with type III spinal muscular atrophy, Ann Clin Transl Neurol., 8, 1622, 10.1002/acn3.51411 Coratti, 2021, Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis, Orphanet J Rare Dis., 16, 430, 10.1186/s13023-021-02065-z Elsheikh, 2021, Safety, tolerability, and effect of nusinersen in non-ambulatory adults with spinal muscular atrophy, Front Neurol., 12, 650532, 10.3389/fneur.2021.650532 Vázquez-Costa, 2022, Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy, Eur J Neurol. Elsheikh, 2021, Safety, tolerability, and effect of nusinersen treatment in ambulatory adults with 5q-SMA, Front Neurol., 12, 650535, 10.3389/fneur.2021.650535 Rich, 2022, Neurofilament levels in CSF and serum in an adult SMA cohort treated with nusinersen, J Neuromuscul Dis., 9, 111, 10.3233/JND-210735 De Wel, 2022, Biochemical and clinical biomarkers in adult SMA 3–4 patients treated with nusinersen for 22 months, Ann Clin Transl Neurol., 9, 1241, 10.1002/acn3.51625 Osmanovic, 2020, Treatment expectations and patient-reported outcomes of nusinersen therapy in adult spinal muscular atrophy, J Neurol., 267, 2398, 10.1007/s00415-020-09847-8 Vázquez-Costa, 2022, Nusinersen in adult patients with 5q spinal muscular atrophy: a multicenter observational cohorts’ study, Eur J Neurol. Meyer, 2021, Treatment expectations and perception of therapy in adult patients with spinal muscular atrophy receiving nusinersen, Eur J Neurol., 28, 2582, 10.1111/ene.14902 Bonanno, 2022, Quality of life assessment in adult spinal muscular atrophy patients treated with nusinersen, J Neurol., 269, 3264, 10.1007/s00415-021-10954-3 Wurster, 2019, Intrathecal administration of nusinersen in adolescent and adult SMA type 2 and 3 patients, J Neurol., 266, 183, 10.1007/s00415-018-9124-0 Cartwright, 2020, Intrathecal delivery of nusinersen in individuals with complicated spines, Muscle Nerve., 62, 114, 10.1002/mus.26899 Stolte, 2018, Feasibility and safety of intrathecal treatment with nusinersen in adult patients with spinal muscular atrophy, Ther Adv Neurol Disord, 11, 10.1177/1756286418803246 Grayev, 2021, A systematic review of procedural complications from transforaminal lumbar puncture for intrathecal nusinersen administration in patients with spinal muscular atrophy, AJNR Am J Neuroradiol., 42, 980, 10.3174/ajnr.A7009 Cox, 2022, Computed tomography-guided transforaminal lumbar puncture using local anesthesia and a straight 22-gauge spinal needle for intrathecal nusinersen in adults: findings in 77 procedures, Interv Neuroradiol., 28, 262, 10.1177/15910199211032842 Weaver, 2021, Transforaminal intrathecal delivery of nusinersen for older children and adults with spinal muscular atrophy and complex spinal anatomy: an analysis of 200 consecutive injections, J Neurointerv Surg., 13, 75, 10.1136/neurintsurg-2020-016058 Spiliopoulos, 2020, Computed-tomography-guided transforaminal intrathecal nusinersen injection in adults with spinal muscular atrophy type 2 and severe spinal deformity. Feasibility, safety and radiation exposure considerations, Eur J Neurol., 27, 1343, 10.1111/ene.14245 Bortolani, 2019, Intrathecal administration of nusinersen in adult and adolescent patients with spinal muscular atrophy and scoliosis: transforaminal versus conventional approach, Neuromuscul Disord., 29, 742, 10.1016/j.nmd.2019.08.007 Kizina, 2019, Clinical implication of dosimetry of computed tomography- and fluoroscopy-guided intrathecal therapy with nusinersen in adult patients with spinal muscular atrophy, Front Neurol., 10, 1, 10.3389/fneur.2019.01166 Oldenburg, 2019, Radiation exposure of image-guided intrathecal administration of nusinersen to adult patients with spinal muscular atrophy, Neuroradiology., 61, 565, 10.1007/s00234-019-02189-x Stolte, 2021, Nusinersen treatment in adult patients with spinal muscular atrophy: a safety analysis of laboratory parameters, J Neurol., 268, 4667, 10.1007/s00415-021-10569-8 Finkel, 2022, Scientific rationale for a higher dose of nusinersen, Ann Clin Transl Neurol., 9, 819, 10.1002/acn3.51562 Markati, 2022, Risdiplam: an investigational survival motor neuron 2 (SMN2) splicing modifier for spinal muscular atrophy (SMA), Expert Opin Investig Drugs., 31, 451, 10.1080/13543784.2022.2056836 Baranello, 2021, Risdiplam in type 1 spinal muscular atrophy, N Engl J Med., 384, 915, 10.1056/NEJMoa2009965 Darras, 2021, Risdiplam-treated infants with type 1 spinal muscular atrophy versus historical controls, N Engl J Med., 385, 427, 10.1056/NEJMoa2102047 Mercuri, 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, randomised, placebo-controlled trial, Lancet Neurol., 21, 42, 10.1016/S1474-4422(21)00367-7 Hahn, 2022, Risdiplam Compassionate Use Program Group. Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany, Orphanet J Rare Dis., 17, 276, 10.1186/s13023-022-02420-8 Sergott, 2021, Risdiplam treatment has not led to retinal toxicity in patients with spinal muscular atrophy, Ann Clin Transl Neurol., 8, 54, 10.1002/acn3.51239 Mendell, 2017, Single-dose gene-replacement therapy for spinal muscular atrophy, N Engl J Med., 377, 1713, 10.1056/NEJMoa1706198 Stolte, 2022, Prevalence of anti-adeno-associated virus serotype 9 antibodies in adult patients with spinal muscular atrophy, Hum Gene Ther., 10.1089/hum.2022.054 Angelozzi, 2008, Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells, J Med Genet., 45, 29, 10.1136/jmg.2007.051177 Frongia, 2019, Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II, Neuromuscul Disord., 29, 517, 10.1016/j.nmd.2019.04.003 Tiziano, 2019, Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol, J Med Genet., 56, 293, 10.1136/jmedgenet-2018-105482 Rudnicki, 2021, Reldesemtiv in patients with spinal muscular atrophy: a phase 2 hypothesis-generating study, Neurotherapeutics., 18, 1127, 10.1007/s13311-020-01004-3