AOC (Atlantic-Oceania-Caribbean) Reference Centre for Neuromuscular Disorders, Paediatric Clinical Research Unit/Paediatric Multi-Thematic Module CIC 1436, Neuropaediatric Department, Toulouse University Hospital, Toulouse, France.
Pediatric Clinical Research Unit, Pediatric Plurithematic Module, CIC 1436, Toulouse, France.
Orphanet J Rare Dis. 2022 Jul 29;17(1):300. doi: 10.1186/s13023-022-02455-x.
ANCHOVY was a global, multicenter, chart-review study that aimed to describe the natural history of Type 1 spinal muscular atrophy (SMA) from a broad geographical area and provide further contextualization of results from the FIREFISH (NCT02913482) interventional study of risdiplam treatment in Type 1 SMA.
Data were extracted from medical records of patients with first symptoms attributable to Type 1 SMA between 28 days and 3 months of age, genetic confirmation of SMA, and confirmed survival of motor neuron 2 copy number of two or unknown. The study period started on 1 January 2008 for all sites; study end dates were site-specific due to local treatment availabilities. Primary endpoints were time to death and/or permanent ventilation and proportion of patients achieving motor milestones. Secondary endpoints included time to initiation of respiratory and feeding support.
Data for 60 patients from nine countries across Asia, Europe and North and South America were analyzed. The median age (interquartile range [IQR]) for reaching death or permanent ventilation was ~ 7.3 (5.9-10.5) months. The median age (IQR) at permanent ventilation was ~ 12.7 (6.9-16.4) months and at death was ~ 41.2 (7.3-not applicable) months. No patients were able to sit without support or achieved any level of crawling, standing or walking.
Findings from ANCHOVY were consistent with published natural history data on Type 1 SMA demonstrating the disease's devastating course, which markedly differed from risdiplam-treated infants (FIREFISH Part 2). The results provide meaningful additions to the literature, including a broader geographical representation.
凤尾鱼是一项全球性、多中心的病历回顾研究，旨在从广泛的地理区域描述 1 型脊髓性肌萎缩症（SMA）的自然病史，并进一步说明 risdiplam 治疗 1 型 SMA 的 FIREFISH（NCT02913482）干预研究结果。
从 28 天至 3 个月龄归因于 1 型 SMA 的首次症状、SMA 的基因确认以及运动神经元 2 拷贝数为两个或未知的存活患者的病历中提取数据。所有地点的研究期均始于 2008 年 1 月 1 日；由于当地治疗的可获得性，研究结束日期因地点而异。主要终点为死亡和/或永久性通气的时间以及达到运动里程碑的患者比例。次要终点包括开始呼吸和喂养支持的时间。
对来自亚洲、欧洲以及北美和南美 9 个国家的 60 名患者的数据进行了分析。达到死亡或永久性通气的中位年龄（四分位距 [IQR]）为7.3（5.9-10.5）个月。永久性通气的中位年龄（IQR）为12.7（6.9-16.4）个月，死亡的中位年龄（IQR）为~41.2（7.3-不适用）个月。没有患者能够不借助支撑物坐立，也没有患者能够爬行、站立或行走。
凤尾鱼的研究结果与已发表的 1 型 SMA 自然病史数据一致，表明该疾病的病程具有破坏性，与接受 risdiplam 治疗的婴儿（FIREFISH 第 2 部分）明显不同。这些结果为文献提供了有意义的补充，包括更广泛的地理代表性。
