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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorMENDONCA, Rodrigo H.
dc.contributor.authorPOLIDO, Graziela J.
dc.contributor.authorMATSUI, Ciro
dc.contributor.authorSILVA, Andre M. S.
dc.contributor.authorSOLLA, Davi J. F.
dc.contributor.authorREED, Umbertina C.
dc.contributor.authorZANOTELI, Edmar
dc.identifier.citationJOURNAL OF NEUROMUSCULAR DISEASES, v.8, n.1, p.101-108, 2021
dc.description.abstractBackground: Spinal muscular atrophy (SMA) is a motor neuron disease associated with progressive muscle weakness and motor disability. Objective: This study aims to report the evaluation of nusinersen, an antisense oligonucleotide, on motor function in patients with SMA types 2 and 3. Methods: This single-center retrospective observational study assessed nusinersen therapy outcomes, measured by HSMFSE or CHOP-INTEND scales, in patients with SMA types 2 and 3, compared to untreated patients, for at least 24 months. Results: A total of 41 patients with SMA types 2 and 3 under nusinersen treatment were included. In 30 treated patients (mean age: 10.6 years; 14 with SMA type 2), the mean change in HFMSE scores was +1.47 points (SD = 0.4) and +1.60 points (SD = 0.6) after 12 and 24 months of treatment, respectively. In contrast, the control group (N= 37) (mean age: 10.2 years; 20 with SMA type 2) presented a mean change of -1.71 points (SD = 0.02) and -3.93 points (SD = 0.55) after 12 and 24 months of follow-up, respectively. The most severe patients under nusinersen treatment (N= 11) showed a change of +2.37 (SD = 1.13) on the CHOP-INTEND scale after 12 months of follow-up. Disease duration at the beginning of treatment was the main predictor of functional improvement. Despite functional gain and motor stabilization, treatment with nusinersen did not prevent the progression of scoliosis. Conclusions: Our data provide evidence for the long-term safety and efficacy of nusinersen use in the treatment of later-onset SMA, and patients with shorter disease duration showed better response to treatment.eng
dc.publisherIOS PRESSeng
dc.relation.ispartofJournal of Neuromuscular Diseases
dc.subjectSpinal muscular atrophyeng
dc.subjectantisense oligonucleotideeng
dc.subjectmotor neuron diseaseeng
dc.subject.othersham controleng
dc.titleReal-World Data from Nusinersen Treatment for Patients with Later-Onset Spinal Muscular Atrophy: A Single Center Experienceeng
dc.rights.holderCopyright IOS PRESSeng
dc.subject.wosClinical Neurologyeng
dc.type.categoryoriginal articleeng
hcfmusp.relation.referenceBielsky AR, 2018, PEDIATR ANESTH, V28, P1105, DOI 10.1111/pan.13500eng
hcfmusp.relation.referenceCalucho M, 2018, NEUROMUSCULAR DISORD, V28, P208, DOI 10.1016/j.nmd.2018.01.003eng
hcfmusp.relation.referenceChabanon A, 2018, PLOS ONE, V13, DOI 10.1371/journal.pone.0201004eng
hcfmusp.relation.referenceDarras BT, 2019, NEUROLOGY, V92, pE2492, DOI 10.1212/WNL.0000000000007527eng
hcfmusp.relation.referenceFagoaga J, 2015, REV NEUROLOGIA, V61, P344, DOI 10.33588/rn.6108.2015319eng
hcfmusp.relation.referenceFinkel RS, 2017, NEW ENGL J MED, V377, P1723, DOI 10.1056/NEJMoa1702752eng
hcfmusp.relation.referenceFinkel R, 2015, NEUROMUSCULAR DISORD, V25, P593, DOI 10.1016/j.nmd.2015.04.009eng
hcfmusp.relation.referenceFinkel RS, 2018, NEUROMUSCULAR DISORD, V28, P197, DOI 10.1016/j.nmd.2017.11.004eng
hcfmusp.relation.referenceHagenacker T, 2020, LANCET NEUROL, V19, P317, DOI 10.1016/S1474-4422(20)30037-5eng
hcfmusp.relation.referenceJochmann E, 2020, THER ADV NEUROL DISO, V13, DOI 10.1177/1756286420907803eng
hcfmusp.relation.referenceKaufmann P, 2012, NEUROLOGY, V79, P1889, DOI 10.1212/WNL.0b013e318271f7e4eng
hcfmusp.relation.referenceLEFEBVRE S, 1995, CELL, V80, P155, DOI 10.1016/0092-8674(95)90460-3eng
hcfmusp.relation.referenceMazzone E, 2011, NEUROMUSCULAR DISORD, V21, P406, DOI 10.1016/j.nmd.2011.02.014eng
hcfmusp.relation.referenceMendonca RH, 2020, ARQ NEUROPSIQUIATReng
hcfmusp.relation.referenceMendonca RD, 2020, NEUROL-GENET, V6, DOI 10.1212/NXG.0000000000000505eng
hcfmusp.relation.referenceMercuri E, 2018, NEW ENGL J MED, V378, P625, DOI 10.1056/NEJMoa1710504eng
hcfmusp.relation.referenceMercuri E, 2018, NEUROMUSCULAR DISORD, V28, P103, DOI 10.1016/j.nmd.2017.11.005eng
hcfmusp.relation.referenceMercuri E, 2016, NEUROMUSCULAR DISORD, V26, P126, DOI 10.1016/j.nmd.2015.10.006eng
hcfmusp.relation.referenceMontes J, 2019, MUSCLE NERVE, V60, P409, DOI 10.1002/mus.26633eng
hcfmusp.relation.referenceMoshe-Lilie O, 2020, NEUROLOGY, V95, pE413, DOI 10.1212/WNL.0000000000009914eng
hcfmusp.relation.referenceMUNSAT TL, 1992, NEUROMUSCULAR DISORD, V2, P423, DOI 10.1016/S0960-8966(06)80015-5eng
hcfmusp.relation.referenceReed UC, 2018, ARQ NEURO-PSIQUIAT, V76, P265, DOI [10.1590/0004-282x20180011, 10.1590/0004-282X20180011]eng
hcfmusp.relation.referenceSansone VA, 2020, J NEUROMUSCULAR DIS, V7, P523, DOI 10.3233/JND-200534eng
hcfmusp.relation.referenceSugarman EA, 2012, EUR J HUM GENET, V20, P27, DOI 10.1038/ejhg.2011.134eng
hcfmusp.relation.referenceSzabo L, 2020, EUR J PAEDIATR NEUROeng
hcfmusp.relation.referenceVaidya S, 2018, QUAL LIFE RES, V27, P3087, DOI 10.1007/s11136-018-1945-xeng
hcfmusp.relation.referenceVeerapandiyan A, 2020, MUSCLE NERVE, V61, P222, DOI 10.1002/mus.26769eng
hcfmusp.relation.referenceWadman RI, 2018, EUR J NEUROL, V25, P512, DOI 10.1111/ene.13534eng
hcfmusp.relation.referenceWalter MC, 2019, J NEUROMUSCULAR DIS, V6, P453, DOI 10.3233/JND-190416eng
hcfmusp.relation.referenceYeo CJJ, 2020, J NEUROMUSCULAR DIS, V7, P257, DOI 10.3233/JND-190453eng
hcfmusp.relation.referenceYoung SD, 2016, MUSCLE NERVE, V54, P836, DOI 10.1002/mus.25120eng
Appears in Collections:

Artigos e Materiais de Revistas Científicas - FM/MNE
Departamento de Neurologia - FM/MNE

Artigos e Materiais de Revistas Científicas - HC/ICHC
Instituto Central - HC/ICHC

Artigos e Materiais de Revistas Científicas - HC/ICr
Instituto da Criança - HC/ICr

Artigos e Materiais de Revistas Científicas - LIM/15
LIM/15 - Laboratório de Investigação em Neurologia

Artigos e Materiais de Revistas Científicas - LIM/45
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica

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