澳大利亚脊髓性肌萎缩症临床和遗传情况的当代分析：基于登记册的研究

IF 7.6 1区医学 Q1 HEALTH CARE SCIENCES & SERVICES

The Lancet Regional Health: Western Pacific Pub Date : 2024-11-06 DOI:10.1016/j.lanwpc.2024.101237

Lakshmi Balaji , Robin Forbes , Anita Cairns , Hugo Sampaio , Andrew J. Kornberg , Lauren Sanders , Phillipa Lamont , Christina Liang , Kristi J. Jones , Kristen Nowak , Cullen O'Gorman , Ian Woodcock , Nancy Briggs , Eppie M. Yiu , Michelle A. Farrar , Didu Kariyawasam

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引用次数: 0

摘要

背景新的诊断和治疗模式改变了脊髓性肌萎缩症（SMA）患者的神经退行性病变轨迹。在这一不断发展的治疗模式中，登记是提供有关治疗模式、治疗效果和医疗服务的真实数据的重要工具。这项横断面研究调查了 2020 年 1 月 1 日至 2023 年 4 月 30 日期间在澳大利亚神经肌肉疾病登记处 (ANMDR) 登记的 SMA 患者的人口统计学、临床和遗传信息、虚弱后遗症、治疗模式和患者报告的结果。分析中使用了描述性统计，并对相关性进行了Chi-Squared或费雪精确检验。截至普查日期，5/195（2.6%）人已死亡。在（n = 190）SMA 患者中，104/190（54.7%）为儿童。澳大利亚的最低患病率为 0.73/100,000。SMN2拷贝与同型SMN1缺失者的表型成反比（p < 0.0001）。154/190（81%）的患者接受了治疗，其中65/137（47.6%）的患者在接受治疗干预后，患者/家长对病情改善的总体印象量表（p <0.0001）有所改善。尽管在诊断和治疗方面取得了进步，但澳大利亚人的死亡率和 SMA 对多系统健康的影响仍然存在。医疗保健服务必须符合以患者为中心的结果，适应不断变化但持续的护理要求。该研究发现，不仅成人 SMA 患者，而且新出现的接受治疗的儿童群体对多学科护理的需求也未得到满足，因此强调必须提供全面的医疗保健服务，以满足他们不断变化的需求。

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A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study

Background

New paradigms of diagnosis and treatment have changed the neurodegenerative trajectory for individuals with spinal muscular atrophy (SMA). Registries are a critical tool to provide real-world data on treatment patterns, their effects and health care provision within this evolving paradigm of care. This study aimed to evaluate the phenotypic and genotypic landscape, treatment patterns and health impact of SMA in Australia through the national registry.

Methods

This cross-sectional study investigated demographic, clinical and genetic information, sequelae of weakness, treatment patterns and patient-reported outcomes amongst individuals with SMA enrolled in the Australian Neuromuscular Disease Registry (ANMDR) from 1st January 2020 to 30th April 2023. Descriptive statistics were used for analysis and Chi-Squared or Fisher's exact tests for associations.

Findings

195 individuals with SMA enrolled into the ANMDR. 5/195 (2.6%) were deceased by censor date. Of (n = 190) individuals living with SMA, 104/190 (54.7%) were children. Minimum Australian prevalence was 0.73/100,000. SMN2 copies were inversely associated with phenotype in those with homozygous SMN1 deletions (p < 0.0001)). Treatment was utilised in 154/190 (81%) of the population, with 65/137 (47.6%) of individuals perceiving improvements with therapeutic intervention on Patient/Parent Global Impression of Improvement scale (p < 0.0001). Engagement with multidisciplinary care practitioners was significantly higher among children with SMA than adults (93% versus 12%, p < 0.0001).

Interpretation

Despite diagnostic and therapeutic advances, mortality and the multi-systemic health impact of SMA continue to be experienced within the Australian population. Healthcare provision must align with patient-centred outcomes, adapting to meeting their changing but ongoing care requirements. The study identified the considerable unmet need for multidisciplinary care, not only for adults with SMA but also for the emerging cohort of treated children, emphasising the imperative for comprehensive healthcare provision to address their evolving needs.

Funding

No funding was received for this study.

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来源期刊

The Lancet Regional Health: Western Pacific Medicine-Pediatrics, Perinatology and Child Health

CiteScore

8.80

自引率

2.80%

发文量

305

审稿时长

11 weeks

期刊介绍： The Lancet Regional Health – Western Pacific, a gold open access journal, is an integral part of The Lancet's global initiative advocating for healthcare quality and access worldwide. It aims to advance clinical practice and health policy in the Western Pacific region, contributing to enhanced health outcomes. The journal publishes high-quality original research shedding light on clinical practice and health policy in the region. It also includes reviews, commentaries, and opinion pieces covering diverse regional health topics, such as infectious diseases, non-communicable diseases, child and adolescent health, maternal and reproductive health, aging health, mental health, the health workforce and systems, and health policy.