Our Journey from Individual Efforts to Nationwide Support: Implementing Newborn Screening for Spinal Muscular Atrophy in Serbia.

IF 4 Q1 GENETICS & HEREDITY
Miloš Brkušanin, Nemanja Garai, Jelena Karanović, Tamara Šljivančanin Jakovljević, Aleksandra Dimitrijević, Kristina Jovanović, Tanja Lazić Mitrović, Željko Miković, Goran Brajušković, Dimitrije Mihailo Nikolić, Dušanka Savić-Pavićević
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Abstract

Innovative treatments for spinal muscular atrophy (SMA) yield the utmost advantages only within the presymptomatic phase, underlining the significance of newborn screening (NBS). We aimed to establish statewide NBS for SMA in Serbia. Our stepwise implementation process involved technical validation of a screening assay, collaboration with patient organizations and medical professionals, a feasibility study, and negotiation with public health representatives. Over 12,000 newborns were tested during the 17-month feasibility study, revealing two unrelated SMA infants and one older sibling. All three children received therapeutic interventions during the presymptomatic phase and have shown no signs of SMA. No false-negative results were found among the negative test results. As frontrunners in this field in Serbia, we established screening and diagnostic algorithms and follow-up protocols and raised awareness among stakeholders about the importance of early disease detection, leading to the incorporation of NBS for SMA into the national program on 15 September 2023. Since then, 54,393 newborns have been tested, identifying six SMA cases and enabling timely treatment. Our study demonstrates that effective collaborations between academia, non-profit organizations, and industry are crucial in bringing innovative healthcare initiatives to fruition, and highlights the potential of NBS to revolutionize healthcare outcomes for presymptomatic SMA infants and their families.

我们从个人努力到全国支持的历程:在塞尔维亚实施新生儿脊髓性肌肉萎缩症筛查。
脊髓性肌萎缩症(SMA)的创新治疗方法只有在无症状阶段才能产生最大的优势,这凸显了新生儿筛查(NBS)的重要性。我们的目标是在塞尔维亚建立全州范围的 SMA NBS。我们的逐步实施过程包括筛查化验的技术验证、与患者组织和医疗专业人员的合作、可行性研究以及与公共卫生代表的协商。在为期 17 个月的可行性研究期间,我们对 12,000 多名新生儿进行了检测,发现了两名无血缘关系的 SMA 婴儿和一名年长的兄弟姐妹。这三个孩子都在无症状阶段接受了治疗干预,至今没有出现 SMA 症状。在阴性检测结果中未发现假阴性结果。作为塞尔维亚该领域的先行者,我们建立了筛查和诊断算法及随访协议,并提高了利益相关者对早期疾病检测重要性的认识,从而使 SMA 的 NBS 于 2023 年 9 月 15 日被纳入国家计划。从那时起,已有 54,393 名新生儿接受了检测,发现了 6 例 SMA 病例,并得到了及时治疗。我们的研究表明,学术界、非营利组织和产业界之间的有效合作对于实现创新性医疗保健计划至关重要,并强调了 NBS 在彻底改变无症状 SMA 婴儿及其家庭的医疗保健结果方面的潜力。
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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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