دورية أكاديمية
Nusinersen in adults with type 3 spinal muscular atrophy: long-term outcomes on motor and respiratory function.
| العنوان: | Nusinersen in adults with type 3 spinal muscular atrophy: long-term outcomes on motor and respiratory function. |
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| المؤلفون: | Serrão C; Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal., Domingues S; Department of Physical Medicine and Rehabilitation, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal., de Campos CF; Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.; Institute of Physiology, Instituto de Medicina Molecular João Lobo Antunes, Centro de Estudos Egas Moniz, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal., Moreira S; Thoracic Department, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal., Conceição I; Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.; Institute of Physiology, Instituto de Medicina Molecular João Lobo Antunes, Centro de Estudos Egas Moniz, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal., de Carvalho M; Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.; Institute of Physiology, Instituto de Medicina Molecular João Lobo Antunes, Centro de Estudos Egas Moniz, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal., Oliveira Santos M; Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal. migueloliveirasantos@hotmail.com.; Institute of Physiology, Instituto de Medicina Molecular João Lobo Antunes, Centro de Estudos Egas Moniz, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal. migueloliveirasantos@hotmail.com. |
| المصدر: | Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2024 Jun; Vol. 45 (6), pp. 2887-2891. Date of Electronic Publication: 2024 Apr 08. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Milano, Italy : Springer-Verlag Italia, c2000- |
| مواضيع طبية MeSH: | Oligonucleotides*/therapeutic use , Oligonucleotides*/pharmacology , Spinal Muscular Atrophies of Childhood*/drug therapy , Spinal Muscular Atrophies of Childhood*/physiopathology, Humans ; Male ; Female ; Adult ; Retrospective Studies ; Longitudinal Studies ; Middle Aged ; Treatment Outcome ; Young Adult ; Follow-Up Studies |
| مستخلص: | Introduction: Nusinersen was approved for 5q spinal muscular atrophy (SMA), irrespective of age, SMA type or functional status. Nonetheless, long-term data on adults with milder phenotypes are scarce. We aimed to characterize evolution on motor and respiratory function in our cohort of adults with type 3 SMA. Methods: We conducted a longitudinal retrospective single-center study, including adults (≥18 years) with type 3 SMA under nusinersen for > 22 months. We reported on motor scores and spirometry parameters. Results: Ten patients were included, with a median follow-up of 34 months (range = 22-46). Four patients (40%) were walkers. None used non-invasive ventilation. In Revised Upper Limb Module (RULM) and Expanded Hammersmith Functional Motor Scale (HFMSE), difference of medians increased at 6, 22 and 46 months comparing to baseline (-0.5 vs. + 1.5 vs. + 2.5 in RULM; + 4.0 vs. + 7.5 vs. + 6.0 in HFMSE). Two (50%) walkers presented a clinically meaningful improvement in 6-min walk distance. We did not report any clinically meaningful decrement in motor scores. Spirometry parameters showed an increasing difference of medians in maximal inspiratory pressure (MIP) and maximal expiratory pressure (MEP) (-3 vs. + 13.4 vs. + 28.7 percentage points of predicted value for MIP; + 11.8 vs. + 13.1 vs. 13.3 percentage points of predicted value for MEP). Discussion: Our cohort supports a sustained benefit of nusinersen in adults with type 3 SMA, in motor and respiratory function. Multicentric studies are still warranted. (© 2024. Fondazione Società Italiana di Neurologia.) |
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| فهرسة مساهمة: | Keywords: Long-term motor outcomes; Nusinersen; Spirometry; Type 3 spinal muscular atrophy |
| المشرفين على المادة: | 5Z9SP3X666 (nusinersen) 0 (Oligonucleotides) |
| تواريخ الأحداث: | Date Created: 20240408 Date Completed: 20240509 Latest Revision: 20240509 |
| رمز التحديث: | 20240510 |
| DOI: | 10.1007/s10072-024-07515-7 |
| PMID: | 38589769 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 1590-3478 |
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| DOI: | 10.1007/s10072-024-07515-7 |