I型脊髓性肌萎缩症与疾病修饰治疗：一项针对2016年以来出生儿童的全国性研究。
Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016.
作者信息
Pera Maria Carmela, Coratti Giorgia, Pane Marika, Masson Riccardo, Sansone Valeria Ada, D'Amico Adele, Catteruccia Michela, Agosto Caterina, Varone Antonio, Bruno Claudio, Messina Sonia, Ricci Federica, Bruno Irene, Procopio Elena, Pini Antonella, Siliquini Sabrina, Zanin Riccardo, Albamonte Emilio, Berardinelli Angela, Mastella Chiara, Baranello Giovanni, Previtali Stefano Carlo, Trabacca Antonio, Bravetti Chiara, Gagliardi Delio, Filosto Massimiliano, de Sanctis Roberto, Finkel Richard, Mercuri Eugenio
机构信息
Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Centro Clinico Nemo, Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
出版信息
EClinicalMedicine. 2024 Nov 30;78:102967. doi: 10.1016/j.eclinm.2024.102967. eCollection 2024 Dec.
BACKGROUND
The advent of disease-modifying treatments (DMT) has changed natural history in 5q Spinal muscular atrophy (SMA). The aim of this study was to report survival and functional aspects in all the Italian type I children born since 2016.
METHODS
The study included all symptomatic children with type I SMA born since January 1st, 2016, when DMTs became available in Italy. All the Italian SMA referral centers provided data on survival and motor, respiratory, and nutritional status. To compare survival rate pre and post DMTs approval, we also included similar data from SMA I patients born between January 1st, 2010, and December 31st, 2015. A two-proportion z-test was conducted to compare the two cohorts. The significance level was set at p < .05.
FINDINGS
241 infants (98%) had type I SMA. Mean follow-up was 3.48 years (SD 2.33). Among type I patients, 42/241 did not survive (25 untreated), while 199 were alive at last follow-up (all treated; mean treatment age 0.6 years), with 25 needing >16 h/day ventilation or tracheostomy with continuous invasive ventilation. 130 of the 199 survivors (65%) achieved independent sitting, and 175 (87.9%) did not require tube feeding.
INTERPRETATION
Our study provides a picture of the 'new natural history' of type I SMA, confirming the impact of the new therapies on the progression of type I with longer survival r and has better motor, respiratory and nutritional.
FUNDING
This research was partially funded by grants from the Italian Ministry of Health.
背景
疾病修饰治疗（DMT）的出现改变了5q型脊髓性肌萎缩症（SMA）的自然病程。本研究的目的是报告自2016年以来出生的所有意大利I型儿童的生存情况和功能状况。
方法
该研究纳入了自2016年1月1日DMT在意大利上市后出生的所有有症状的I型SMA儿童。所有意大利SMA转诊中心提供了生存情况以及运动、呼吸和营养状况的数据。为了比较DMT获批前后的生存率，我们还纳入了2010年1月1日至2015年12月31日出生的SMA I型患者的类似数据。进行双比例z检验以比较这两个队列。显著性水平设定为p < 0.05。
结果
241名婴儿（98%）患有I型SMA。平均随访时间为3.48年（标准差2.33）。在I型患者中，42/241未存活（25例未接受治疗），而199例在最后一次随访时存活（均接受了治疗；平均治疗年龄0.6岁），其中25例每天需要>16小时通气或气管切开并持续有创通气。199名幸存者中有130名（65%）实现了独立坐立，175名（87.9%）不需要管饲。
解读
我们的研究描绘了I型SMA的“新自然病程”，证实了新疗法对I型进展的影响，患者生存期延长，运动、呼吸和营养状况更好。
资金来源
本研究部分由意大利卫生部的资助。
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