https://scholars.lib.ntu.edu.tw/handle/123456789/636685
標題: | Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go | 作者: | Dangouloff, Tamara Vrščaj, Eva Servais, Laurent Osredkar, Damjan YIN-HSIU CHIEN |
關鍵字: | Newborn screening; Nusinersen; Onasemnogene abeparvovec; Pre-symptomatic; Risdiplam; Spinal muscular atrophy | 公開日期: | 六月-2021 | 卷: | 31 | 期: | 6 | 來源出版物: | Neuromuscular disorders : NMD | 摘要: | Spinal muscular atrophy (SMA) is a rare and devastating disease. New disease-modifying treatments have recently been approved and early treatment has been related to a better outcome. In this context, several newborn screening (NBS) programs have been implemented. The aim of the study was to obtain a global overview on the current situation and perspectives on SMA NBS. We conducted a survey and contacted experts from 152 countries, from which we gathered 87 responses. We identified 9 SMA NBS programs that have so far detected 288 newborns with SMA out of 3,674,277 newborns screened. Funding, screening methods, organisation, and consent process were variable between SMA NBS programs. Many respondents pointed the lack of cost/benefit data as a major obstacle to SMA NBS implementation. In the next four years, our data suggest a 24% coverage of newborns from countries where a disease-modifying drug is available and 8,5% coverage in countries with no diseases-modifying drugs. The annual proportion of newborns to be screened in the coming years is expected to increase steadily. The experts expressed a strong need for the implementation of SMA NBS as means to improve care for patients with SMA. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/636685 | ISSN: | 09608966 | DOI: | 10.1016/j.nmd.2021.03.007 |
顯示於: | 醫學系 |
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