脊髓性肌萎缩症的临床遗传学特征和对疾病改变疗法的反应:巴西南部一个参考中心的实际经验。

IF 2.8 4区 医学 Q1 PEDIATRICS Jornal de pediatria Pub Date : 2024-10-16 DOI:10.1016/j.jped.2024.07.011
Ana Letícia Amorim de Albuquerque, Júlia Kersting Chadanowicz, Isabela Possebon Bevilacqua, Ana Lucia Portella Staub, Pablo Brea Winckler, Patricia Zambone da Silva, Simone Chaves Fagondes, Renata Salatti Ferrari, Claudia Denise de Oliveira Trojahn, Viviane Zechlinski Sacharuk, Thayne Woycinck Kowalski, Karina Carvalho Donis, Michele Michelin Becker, Jonas Alex Morales Saute
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引用次数: 0

摘要

目的:与 5q 染色体相关的脊髓性肌肉萎缩症(SMA)是一种常染色体隐性神经退行性疾病,以进行性近端肌肉萎缩和无力为特征。本研究报告了巴西南部的实际经验,以解决拉丁美洲地区缺乏新型疾病修饰疗法研究的问题:这是一项单中心历史队列研究,纳入了在罕见病地区参考服务机构确诊的所有脊髓性肌萎缩症患者:结果:共纳入 81 名患者,其中 7 人在随访期间死亡。其余74名患者中,5.4%被归类为症状前患者,24.3%为SMA 1型患者,28.4%为2型患者,36.5%为3型患者,5.4%为4型患者。症状前病例的平均随访时间为 1.8 年,SMA 2 型和 3 型病例的平均随访时间为 8.7 年。这些患者中约有 42% 接受了特定的疾病修饰治疗,其中 96.8% 接受了 Nusinersen 治疗,19.4% 过渡到使用 Onasemnogene Abeparvovec 进行基因治疗,6.4% 开始接受 Risdiplam 治疗。大多数 1 型 SMA 患者都在接受疾病调节治疗,而只有略高于三分之一的 2 型患者和大约 10% 的 3 型患者在接受此类治疗。在接受治疗的患者中,80%的患者在随访期间运动表现有所改善,治疗反应较差与治疗开始较晚和基线运动功能评分较低有关:这项真实世界的研究证实,在中低收入国家的背景下,巴西的 SMA 疾病改变疗法非常有效,患者越早接受治疗,功能状况越好,疗效越显著。
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Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil.

Objective: Spinal Muscular Atrophy linked to chromosome 5q (SMA) is an autosomal recessive neurodegenerative disease characterized by progressive proximal muscle atrophy and weakness. This study addresses the scarcity of research on novel disease-modifying therapies for SMA in Latin America by reporting a real-world experience in Southern Brazil.

Methodology: This is a single-center historical cohort that included all patients diagnosed with spinal muscular atrophy at a Regional Reference Service for rare diseases.

Results: Eighty-one patients were included, of whom 7 died during follow-up. Of the remaining 74 patients, 5.4 % were classified as pre-symptomatic, 24.3 % with SMA type 1, 28.4 % with type 2, 36.5 % with type 3, and 5.4 % with type 4. The mean follow-up time ranged from 1.8 years for pre-symptomatic cases to 8.7 years for SMA types 2 and 3. Approximately 42 % of these patients received specific disease-modifying therapy, of these, 96.8 % received Nusinersen, with 19.4 % transitioning to gene therapy using Onasemnogene Abeparvovec, and 6.4 % starting Risdiplam. Most patients with SMA type 1 were on disease-modifying treatment, whereas only slightly over a third of patients with type 2 and about 10 % of type 3 were receiving such treatments. Among treated patients, 80 % demonstrated improvement in motor performance during the follow-up, with a lesser therapeutic response being associated with late initiation of treatment and low motor function scores at baseline.

Conclusion: This real-world study reinforces the effectiveness of disease-modifying therapies for SMA in Brazil within the context of low- and middle-income countries, which is greater the earlier and the better the patient's functional status.

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来源期刊
Jornal de pediatria
Jornal de pediatria 医学-小儿科
CiteScore
5.60
自引率
3.00%
发文量
93
审稿时长
43 days
期刊介绍: Jornal de Pediatria is a bimonthly publication of the Brazilian Society of Pediatrics (Sociedade Brasileira de Pediatria, SBP). It has been published without interruption since 1934. Jornal de Pediatria publishes original articles and review articles covering various areas in the field of pediatrics. By publishing relevant scientific contributions, Jornal de Pediatria aims at improving the standards of pediatrics and of the healthcare provided for children and adolescents in general, as well to foster debate about health.
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