Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy

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article
Data de publicação
2024
DOI
Scopus
Web of Science
PubMed
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Título da Revista
ISSN da Revista
Título do Volume
Editora
ASSOC ARQUIVOS NEURO- PSIQUIATRIA
Autores
ARAUJO, Alexandra Prufer de Queiroz Campos
BECKER, Michele Michelin
FORTES, Clarisse Pereira Dias Drumond
FRANCA, Marcondes Cavalcante
MACHADO-COSTA, Marcela Camara
MARQUES JR., Wilson
NARDES, Flavia
Citação
ARQUIVOS DE NEURO-PSIQUIATRIA, v.82, n.1, p.8-18, 2024
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Spinal muscular atrophy linked to chromosome 5 (SMA-5q) is an autosomal recessive genetic disease caused by mutations in the SMN1 . SMA-5q is characterized by progressive degeneration of the spinal cord and bulbar motor neurons, causing severe motor and respiratory impairment with reduced survival, especially in its more severe clinical forms. In recent years, highly effective disease-modifying therapies have emerged, either acting by regulating the splicing of exon 7 of the SMN2 gene or adding a copy of the SMN1 gene through gene therapy, providing a drastic change in the natural history of the disease. In this way, developing therapeutic guides and expert consensus becomes essential to direct the use of these therapies in clinical practice. This consensus, prepared by Brazilian experts, aimed to review the main available disease-modifying therapies, critically analyze the results of clinical studies, and provide recommendations for their use in clinical practice for patients with SMA-5q. This consensus also addresses aspects related to diagnosis, genetic counseling, and follow-up of patients under drug treatment. Thus, this consensus provides valuable information regarding the current management of SMA-5q, helping therapeutic decisions in clinical practice and promoting additional gains in outcomes.
Palavras-chave
Spinal Muscular Atrophy, Survival of Motor Neuron 1 Protein, Oligonucleotides, Risdiplam, Genetic Therapy, Onasemnogene abeparvovec
URI
https://observatorio.fm.usp.br/handle/OPI/58917
Referências
  1. Abbas KS, 2022, MEDICINA-LITHUANIA, V58, DOI 10.3390/medicina58020213
  2. Ali HG, 2021, GENE THER, V28, P676, DOI 10.1038/s41434-021-00273-7
  3. Alías L, 2018, EUR J HUM GENET, V26, P1554, DOI 10.1038/s41431-018-0193-4
  4. AlNaimi A, 2023, PEDIATR PULM, V58, P1004, DOI 10.1002/ppul.26285
  5. [Anonymous], EVRYSDI® (risdiplam)
  6. [Anonymous], 2023, Protocolos clinicos e diretrizes terapeuticas (PCDT)-Atrofia Muscular Espinhal Tipo I e tipo II
  7. Antonaci L, 2023, EUR J PEDIATR, V182, P2935, DOI 10.1007/s00431-023-04883-8
  8. Aragon-Gawinska K, 2023, GENES-BASEL, V14, DOI 10.3390/genes14071377
  9. Aragon-Gawinska K, 2018, NEUROLOGY, V91, pE1312, DOI 10.1212/WNL.0000000000006281
  10. Arkblad EL, 2006, NEUROMUSCULAR DISORD, V16, P830, DOI 10.1016/j.nmd.2006.08.011
  11. Arslan D, 2023, NEUROL SCI, V44, P2393, DOI 10.1007/s10072-023-06698-9
  12. Baranello G., 2023 ANN SMA RES CLI
  13. Baranello G, 2021, NEW ENGL J MED, V384, P915, DOI 10.1056/NEJMoa2009965
  14. Belancic A, 2023, J CLIN MED, V12, DOI 10.3390/jcm12082839
  15. Berti B., 2022, Oral and Swallowing Abilities Tool (OrSAT) in nusinersen treated patients Arch Dis Child, DOI [10.1136/archdischild-2022-323899, DOI 10.1136/ARCHDISCHILD-2022-323899]
  16. Bjelica B, 2023, J NEUROL, V270, P3616, DOI 10.1007/s00415-023-11711-4
  17. Boemer F, 2021, SCI REP-UK, V11, DOI 10.1038/s41598-021-99496-2
  18. Bueno KC, 2011, NEUROEPIDEMIOLOGY, V36, P105, DOI 10.1159/000324156
  19. Calucho M, 2018, NEUROMUSCULAR DISORD, V28, P208, DOI 10.1016/j.nmd.2018.01.003
  20. Chacko A, 2023, NEUROLOGY, V100, P914, DOI 10.1212/WNL.0000000000206826
  21. Chand DH, 2022, PEDIATR NEUROL, V132, P27, DOI 10.1016/j.pediatrneurol.2022.05.001
  22. Chen KA, 2021, PAEDIATR RESPIR REV, V39, P54, DOI 10.1016/j.prrv.2020.09.002
  23. Chen TH, 2020, INT J MOL SCI, V21, DOI 10.3390/ijms21093297
  24. Chiriboga CA, 2016, NEUROLOGY, V86, P890, DOI 10.1212/WNL.0000000000002445
  25. Chiriboga CA, 2023, NEUROL THER, V12, P543, DOI 10.1007/s40120-023-00444-1
  26. Cleary Y, 2021, CLIN PHARMACOL THER, V110, P1547, DOI 10.1002/cpt.2384
  27. Coratti G, 2021, ORPHANET J RARE DIS, V16, DOI 10.1186/s13023-021-02065-z
  28. Crawford TO, 2023, MUSCLE NERVE, V68, P157, DOI 10.1002/mus.27853
  29. Crawford TO, 2012, PLOS ONE, V7, DOI 10.1371/journal.pone.0033572
  30. D'Silva AM, 2022, ANN CLIN TRANSL NEUR, V9, P339, DOI 10.1002/acn3.51519
  31. Darras BT, 2021, NEW ENGL J MED, V385, P427, DOI 10.1056/NEJMoa2102047
  32. Darras BT, 2019, NEUROLOGY, V92, pE2492, DOI 10.1212/WNL.0000000000007527
  33. Darras BT, 2015, PEDIATR CLIN N AM, V62, P743, DOI 10.1016/j.pcl.2015.03.010
  34. Davidson JE, 2022, AUST J GEN PRACT, V51, P38, DOI 10.31128/AJGP-03-21-5924
  35. Day JW, 2022, BMC PEDIATR, V22, DOI 10.1186/s12887-022-03671-x
  36. Day JW, 2021, MOL THER-METH CLIN D, V21, P76, DOI 10.1016/j.omtm.2021.02.014
  37. Day JW, 2021, LANCET NEUROL, V20, P284, DOI 10.1016/S1474-4422(21)00001-6
  38. De Vivo DC, 2019, NEUROMUSCULAR DISORD, V29, P842, DOI 10.1016/j.nmd.2019.09.007
  39. Edel L, 2021, NEUROMUSCULAR DISORD, V31, P300, DOI 10.1016/j.nmd.2021.01.008
  40. Elkins K, 2022, AM J MED GENET C, V190, P187, DOI 10.1002/ajmg.c.32003
  41. Fainmesser Y, 2022, NEUROMUSCULAR DISORD, V32, P451, DOI 10.1016/j.nmd.2022.04.003
  42. Farrar MA, 2018, J NEUROL NEUROSUR PS, V89, P937, DOI 10.1136/jnnp-2017-317412
  43. Feldkötter M, 2002, AM J HUM GENET, V70, P358, DOI 10.1086/338627
  44. Finkel RS, 2017, NEW ENGL J MED, V377, P1723, DOI 10.1056/NEJMoa1702752
  45. Finkel RS, 2023, J NEUROMUSCULAR DIS, V10, P813, DOI 10.3233/JND-221667
  46. Finkel RS, 2023, J NEUROMUSCULAR DIS, V10, P389, DOI 10.3233/JND-221560
  47. Finkel RS, 2021, LANCET CHILD ADOLESC, V5, P491, DOI 10.1016/S2352-4642(21)00100-0
  48. Finkel RS, 2016, LANCET, V388, P3017, DOI 10.1016/S0140-6736(16)31408-8
  49. Friese J, 2021, J NEUROMUSCULAR DIS, V8, P209, DOI 10.3233/JND-200593
  50. Gaillard J, 2023, J PEDIATR-US, V260, DOI 10.1016/j.jpeds.2023.113493
  51. Galletta F, 2022, J CLIN PHARM THER, V47, P1478, DOI 10.1111/jcpt.13733
  52. Gallone Annamaria, 2022, Acta Myol, V41, P76, DOI 10.36185/2532-1900-074
  53. Gavriilaki M, 2022, NEUROTHERAPEUTICS, V19, P464, DOI 10.1007/s13311-022-01200-3
  54. Glascock J, 2020, J NEUROMUSCULAR DIS, V7, P97, DOI 10.3233/JND-190468
  55. Guillou J, 2022, BLOOD ADV, V6, P4266, DOI 10.1182/bloodadvances.2021006419
  56. Hagenacker T, 2020, LANCET NEUROL, V19, P317, DOI 10.1016/S1474-4422(20)30037-5
  57. Hahn A, 2022, ORPHANET J RARE DIS, V17, DOI 10.1186/s13023-022-02420-8
  58. Iwayama H, 2023, BRAIN DEV-JPN, V45, P110, DOI 10.1016/j.braindev.2022.10.006
  59. Jochmann E, 2020, THER ADV NEUROL DISO, V13, DOI 10.1177/1756286420907803
  60. Kay DM, 2020, GENET MED, V22, P1296, DOI 10.1038/s41436-020-0824-3
  61. Kichula EA, 2021, MUSCLE NERVE, V64, P413, DOI 10.1002/mus.27363
  62. Kirwin SM, 2013, MOL GENET GENOM MED, V1, P113, DOI 10.1002/mgg3.10
  63. Kletzl H, 2022, BRIT J CLIN PHARMACO, V88, P3749, DOI 10.1111/bcp.15319
  64. Kluger BM, 2013, NEUROLOGY, V80, P409, DOI 10.1212/WNL.0b013e31827f07be
  65. Kolb SJ, 2011, ARCH NEUROL-CHICAGO, V68, P979, DOI 10.1001/archneurol.2011.74
  66. Krosschell KJ, 2023, J NEUROMUSCULAR DIS, V10, P337, DOI 10.3233/JND-221519
  67. Kwon JM, 2022, ANN CLIN TRANSL NEUR, V9, P810, DOI 10.1002/acn3.51560
  68. Latzer IT, 2023, PEDIATR NEUROL, V144, P60, DOI 10.1016/j.pediatrneurol.2023.04.007
  69. Lee S, 2022, BRAIN DEV-JPN, V44, P287, DOI 10.1016/j.braindev.2021.12.006
  70. LEFEBVRE S, 1995, CELL, V80, P155, DOI 10.1016/0092-8674(95)90460-3
  71. Leon-Astudillo C, 2023, SLEEP MED, V101, P234, DOI 10.1016/j.sleep.2022.11.006
  72. Liu B, 2020, J MOL DIAGN, V22, P619, DOI 10.1016/j.jmoldx.2020.01.015
  73. Lunn MR, 2008, LANCET, V371, P2120, DOI 10.1016/S0140-6736(08)60921-6
  74. Lusakowska A, 2023, ORPHANET J RARE DIS, V18, DOI 10.1186/s13023-023-02769-4
  75. MacCannell D, 2022, CNS DRUGS, V36, P181, DOI 10.1007/s40263-022-00899-0
  76. Madan E, 2022, PEDIATR NEUROL, V132, P33, DOI 10.1016/j.pediatrneurol.2022.04.008
  77. Masson R, 2022, LANCET NEUROL, V21, P1110, DOI 10.1016/S1474-4422(22)00339-8
  78. Matesanz SE, 2021, PEDIATR NEUROL, V118, P1, DOI 10.1016/j.pediatrneurol.2021.01.012
  79. Matsumura-Kimoto Y, 2016, BIOL BLOOD MARROW TR, V22, P1102, DOI 10.1016/j.bbmt.2016.02.020
  80. McCluskey G, 2023, MUSCLE NERVE, V67, P157, DOI 10.1002/mus.27755
  81. McGrattan KE, 2023, J NEUROMUSCULAR DIS, V10, P531, DOI 10.3233/JND-221531
  82. McMillan HJ, 2021, J NEUROMUSCULAR DIS, V8, P553, DOI 10.3233/JND-200610
  83. Mendell JR, 2017, NEW ENGL J MED, V377, P1713, DOI 10.1056/NEJMoa1706198
  84. Mendell JR, 2021, JAMA NEUROL, V78, P834, DOI 10.1001/jamaneurol.2021.1272
  85. Mendonca R H., 2023, Gene Ther
  86. Mendonça RD, 2021, J NEUROMUSCULAR DIS, V8, P217, DOI 10.3233/JND-200533
  87. Mendonça RD, 2020, NEUROL-GENET, V6, DOI 10.1212/NXG.0000000000000505
  88. Mendonça RH, 2021, J NEUROMUSCULAR DIS, V8, P101, DOI 10.3233/JND-200551
  89. Mercuri E, 2018, NEW ENGL J MED, V378, P625, DOI 10.1056/NEJMoa1710504
  90. Mercuri E, 2023, EUR J NEUROL, V30, P1945, DOI 10.1111/ene.15499
  91. Mercuri E, 2022, LANCET NEUROL, V21, P42, DOI 10.1016/S1474-4422(21)00367-7
  92. Mercuri E, 2021, LANCET NEUROL, V20, P832, DOI 10.1016/S1474-4422(21)00251-9
  93. Mercuri E, 2018, NEUROMUSCULAR DISORD, V28, P103, DOI 10.1016/j.nmd.2017.11.005
  94. Merlini L, 2004, MUSCLE NERVE, V29, P548, DOI 10.1002/mus.20018
  95. Messina S, 2017, NEUROMUSCULAR DISORD, V27, P1084, DOI 10.1016/j.nmd.2017.09.006
  96. Mirea A, 2021, J CLIN MED, V10, DOI 10.3390/jcm10235540
  97. Montes J, 2019, MUSCLE NERVE, V60, P409, DOI 10.1002/mus.26633
  98. Moshe-Lilie O, 2020, NEUROLOGY, V95, pE413, DOI 10.1212/WNL.0000000000009914
  99. Murad M Hassan, 2016, Evid Based Med, V21, P125, DOI 10.1136/ebmed-2016-110401
  100. Garzón NCN, 2023, MUSCLE NERVE, V67, P407, DOI 10.1002/mus.27804
  101. Oechsel KF, 2021, MUSCLE NERVE, V64, P487, DOI 10.1002/mus.27375
  102. Ogbonmide T, 2023, CUREUS J MED SCIENCE, V15, DOI 10.7759/cureus.36197
  103. Oskoui M, 2023, J NEUROL, V270, P2531, DOI 10.1007/s00415-023-11560-1
  104. Osmanovic A, 2021, THER ADV NEUROL DISO, V14, DOI 10.1177/1756286421998902
  105. Pane M, 2023, ECLINICALMEDICINE, V59, DOI 10.1016/j.eclinm.2023.101997
  106. Pane M, 2023, EUR J NEUROL, V30, P1755, DOI 10.1111/ene.15768
  107. Pane M, 2019, ANN NEUROL, V86, P443, DOI 10.1002/ana.25533
  108. Pane M, 2018, NEUROMUSCULAR DISORD, V28, P582, DOI 10.1016/j.nmd.2018.05.010
  109. Pascual-Morena C, 2024, PHARMACOTHERAPY, V44, P97, DOI 10.1002/phar.2866
  110. Pechmann A, 2023, J NEUROMUSCULAR DIS, V10, P29, DOI 10.3233/JND-221600
  111. Pechmann A, 2020, J NEUROMUSCULAR DIS, V7, P41, DOI 10.3233/JND-190441
  112. Pechmann A, 2019, ORPHANET J RARE DIS, V14, DOI 10.1186/s13023-019-0998-4
  113. Pechmann Astrid, 2018, J Neuromuscul Dis, V5, P135, DOI 10.3233/JND-180315
  114. Pera MC, 2021, ANN CLIN TRANSL NEUR, V8, P1622, DOI 10.1002/acn3.51411
  115. Philippidis A, 2022, HUM GENE THER, V33, P842, DOI 10.1089/hum.2022.29216.bfs
  116. Castellano IP, 2022, NEUROLOGIA, V37, P216, DOI [10.1016/j.nrleng.2021.07.002, 10.1016/j.nrl.2021.07.008]
  117. Prior Thomas W, 2016, Curr Protoc Hum Genet, V88, DOI 10.1002/0471142905.hg0927s88
  118. Prior TW, 2009, AM J HUM GENET, V85, P408, DOI 10.1016/j.ajhg.2009.08.002
  119. Prior TW, 2000, GeneReviews®, P1993
  120. Ramos-Platt L, 2022, INT J GEN MED, V15, P7341, DOI 10.2147/IJGM.S369021
  121. Ratni H, 2018, J MED CHEM, V61, P6501, DOI 10.1021/acs.jmedchem.8b00741
  122. Ricci M, 2023, ANN NEUROL, V94, P1126, DOI 10.1002/ana.26788
  123. Rouzier C, 2020, ARCH PEDIATRIE, V27, P9, DOI 10.1016/S0929-693X(20)30270-0
  124. Sansone VA, 2020, J NEUROMUSCULAR DIS, V7, P523, DOI 10.3233/JND-200534
  125. Sansone VA, 2020, J PEDIATR-US, V219, P223, DOI 10.1016/j.jpeds.2019.12.047
  126. Scheijmans FEV, 2022, BRAIN COMMUN, V4, DOI 10.1093/braincomms/fcac269
  127. Schreiber-Katz O, 2023, SCI REP-UK, V13, DOI 10.1038/s41598-023-31617-5
  128. Sergott RC, 2021, ANN CLIN TRANSL NEUR, V8, P54, DOI 10.1002/acn3.51239
  129. Serra-Juhe C, 2019, EUR J HUM GENET, V27, P1774, DOI 10.1038/s41431-019-0415-4
  130. Servais L., 2022, J Neurol Neurosurg Psychiatry, V93, pe2.149
  131. Shell RD, 2023, NEUROMUSCULAR DISORD, V33, P670, DOI 10.1016/j.nmd.2023.06.005
  132. Shih STF, 2021, J NEUROL NEUROSUR PS, V92, P1296, DOI 10.1136/jnnp-2021-326344
  133. Shin HJ, 2023, WORLD J PEDIATR, V19, P450, DOI 10.1007/s12519-022-00638-x
  134. Slayter J, 2021, J NEUROMUSCULAR DIS, V8, P579, DOI 10.3233/JND-200617
  135. Stettner GM, 2023, BMC NEUROL, V23, DOI 10.1186/s12883-023-03133-6
  136. Steurer J, 2011, SKELETAL RADIOL, V40, P959, DOI 10.1007/s00256-011-1145-z
  137. Strauss KA, 2022, NAT MED, V28, P1381, DOI 10.1038/s41591-022-01866-4
  138. Strauss KA, 2022, NAT MED, V28, P1390, DOI 10.1038/s41591-022-01867-3
  139. Sugarman EA, 2012, EUR J HUM GENET, V20, P27, DOI 10.1038/ejhg.2011.134
  140. Szabó L, 2020, EUR J PAEDIATR NEURO, V27, P37, DOI 10.1016/j.ejpn.2020.05.002
  141. Tachibana Y, 2023, INT J NEUROSCI, DOI 10.1080/00207454.2023.2251662
  142. Tosi Michele, 2022, Acta Myol, V41, P117, DOI 10.36185/2532-1900-077
  143. VANDERSTEEGE G, 1995, LANCET, V345, P985, DOI 10.1016/S0140-6736(95)90732-7
  144. Veerapandiyan A, 2020, MUSCLE NERVE, V61, P222, DOI 10.1002/mus.26769
  145. Waldrop MA, 2020, PEDIATRICS, V146, DOI 10.1542/peds.2020-0729
  146. Walter MC, 2019, J NEUROMUSCULAR DIS, V6, P453, DOI 10.3233/JND-190416
  147. Weiss C, 2022, LANCET CHILD ADOLESC, V6, P17, DOI 10.1016/S2352-4642(21)00287-X
  148. Wirth B, 2020, ANNU REV GENOM HUM G, V21, P231, DOI 10.1146/annurev-genom-102319-103602
  149. Xiao L, 2023, PEDIATR PULM, V58, P161, DOI 10.1002/ppul.26173
  150. Yang DL, 2023, J PAEDIATR CHILD H, V59, P431, DOI 10.1111/jpc.16340
  151. Yang H, 2023, BMC NEUROL, V23, DOI 10.1186/s12883-023-03063-3
  152. Yeo CJJ, 2020, J NEUROMUSCULAR DIS, V7, P257, DOI 10.3233/JND-190453
  153. Young SD, 2023, J CLIN MED, V12, DOI 10.3390/jcm12154901
  154. Zhong ZJ, 2023, FRONT PEDIATR, V11, DOI 10.3389/fped.2023.1152318

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