脊髓肌肉萎缩症症状前治疗的系统性综述。

IF 4 Q1 GENETICS & HEREDITY International Journal of Neonatal Screening Pub Date : 2024-08-14 DOI:10.3390/ijns10030056
Katy Cooper, Gamze Nalbant, Anthea Sutton, Sue Harnan, Praveen Thokala, Jim Chilcott, Alisdair McNeill, Alice Bessey
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引用次数: 0

摘要

脊髓性肌萎缩症(SMA)会导致脊髓运动神经元变性。包括纽西奈森(nusinersen)、利地普兰(risdiplam)和onasemnogene abeparvovec在内的治疗方法已被证明能有效减轻症状,最近的研究表明,在无症状阶段开始治疗效果更好。本系统性综述综合了截至 2023 年 12 月发表的有关 5q SMA 症前治疗的前瞻性研究结果。综述确定了三项关于症状前治疗的单臂介入性研究(NURTURE、RAINBOWFISH 和 SPR1NT)、六项比较症状前或筛查队列与症状队列的观察性研究,以及十二项仅针对筛查队列(即通过新生儿 SMA 筛查确定的婴儿)的随访研究。在 Nusinersen 的 NURTURE 研究和 onasemnogene abeparvovec 的 SPR1NT 研究中,有三个 SMN2 拷贝的婴儿达到了大多数运动里程碑。在这两项研究中,有两个 SMN2 拷贝的婴儿达到了大多数运动发育里程碑,但有些婴儿的发育有所延迟,有些婴儿需要呼吸或喂养支持。RAINBOWFISH对risdiplam的研究正在进行中。对 SPR1NT 的无症状治疗与未治疗或有症状治疗队列进行的初步比较表明,无症状治疗可改善患者的预后。比较观察研究支持这一结论,即与有症状阶段的治疗相比,症状前治疗和筛查后的早期治疗可改善预后。进一步的研究应评估SMA症状前治疗的长期临床效果和成本效益。
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Systematic Review of Presymptomatic Treatment for Spinal Muscular Atrophy.

Spinal muscular atrophy (SMA) causes the degeneration of motor neurons in the spinal cord. Treatments including nusinersen, risdiplam, and onasemnogene abeparvovec have been shown to be effective in reducing symptoms, with recent studies suggesting greater effectiveness when treatment is initiated in the presymptomatic stage. This systematic review synthesises findings from prospective studies of presymptomatic treatment for 5q SMA published up to December 2023. The review identified three single-arm interventional studies of presymptomatic treatment (NURTURE, RAINBOWFISH, and SPR1NT), six observational studies comparing presymptomatic or screened cohorts versus symptomatic cohorts, and twelve follow-up studies of screened cohorts only (i.e., babies identified via newborn screening for SMA). Babies with three SMN2 copies met most motor milestones in the NURTURE study of nusinersen and in the SPR1NT study of onasemnogene abeparvovec. Babies with two SMN2 copies in these two studies met most motor milestones but with some delays, and some required ventilatory or feeding support. The RAINBOWFISH study of risdiplam is ongoing. Naïve comparisons of presymptomatic treatment in SPR1NT, versus untreated or symptomatic treatment cohorts, suggested improved outcomes in patients treated presymptomatically. Comparative observational studies supported the finding that presymptomatic treatment, and early treatment following screening, may improve outcomes compared with treatment at the symptomatic stage. Further research should assess the long-term clinical outcomes and cost-effectiveness of presymptomatic treatment for SMA.

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来源期刊
International Journal of Neonatal Screening
International Journal of Neonatal Screening Medicine-Pediatrics, Perinatology and Child Health
CiteScore
6.70
自引率
20.00%
发文量
56
审稿时长
11 weeks
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