Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.
Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.
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在比利时南部，为期三年的脊髓性肌萎缩症新生儿筛查试点项目变成了官方项目。
DOI：
10.1038/s41598-021-99496-2
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发表时间：
2021-10-07
影响因子：
4.6
通讯作者：
Servais L
中科院分区：
文献类型：
--
作者：
Boemer F;Caberg JH;Beckers P;Dideberg V;di Fiore S;Bours V;Marie S;Dewulf J;Marcelis L;Deconinck N;Daron A;Blasco-Perez L;Tizzano E;Hiligsmann M;Lombet J;Pereira T;Lopez-Granados L;Shalchian-Tehran S;van Assche V;Willems A;Huybrechts S;Mast B;van Olden R;Dangouloff T;Servais L
自 2016 年以来，三种治疗脊髓性肌萎缩症 (SMA) 的新疗法已获得美国食品药品监督管理局和欧洲药品管理局的批准。虽然这些新疗法改善了首次治疗时出现症状的患者的生活质量，但在症状出现之前给药明显更有效。因此，一些国家启动了新生儿筛查计划。 2018 年，我们在比利时列日地区启动了一项为期 3 年的试点计划，对新生儿进行 SMA 筛查。该计划迅速扩展到整个比利时南部，该地区每年约有 55,000 名新生儿出生。在试点计划期间，对 136,339 名新生儿进行了 SMN1 外显子 7 缺失检测，这是 SMA 最常见的原因。通过该筛查鉴定出 9 例具有纯合性缺失的 SMA 病例。另一名患者在出现症状后被识别，并被证明是 SMN1 外显子 7 缺失和相反等位基因点突变的杂合子。这十名患者接受了治疗。该试点计划现已成功转变为比利时南部的官方新生儿筛查计划。报告了在实施该试点计划期间吸取的经验教训。
Three new therapies for spinal muscular atrophy (SMA) have been approved by the United States Food and Drug Administration and the European Medicines Agency since 2016. Although these new therapies improve the quality of life of patients who are symptomatic at first treatment, administration before the onset of symptoms is significantly more effective. As a consequence, newborn screening programs have been initiated in several countries. In 2018, we launched a 3-year pilot program to screen newborns for SMA in the Belgian region of Liège. This program was rapidly expanding to all of Southern Belgium, a region of approximately 55,000 births annually. During the pilot program, 136,339 neonates were tested for deletion of exon 7 of SMN1, the most common cause of SMA. Nine SMA cases with homozygous deletion were identified through this screen. Another patient was identified after presenting with symptoms and was shown to be heterozygous for the SMN1 exon 7 deletion and a point mutation on the opposite allele. These ten patients were treated. The pilot program has now successfully transitioned into the official neonatal screening program in Southern Belgium. The lessons learned during implementation of this pilot program are reported.
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影响因子：
64.5
作者：
LEFEBVRE, S;BURGLEN, L;MELKI, J
通讯作者：
MELKI, J
影响因子：
3.9
作者：
Blasco-Pérez L;Paramonov I;Leno J;Bernal S;Alias L;Fuentes-Prior P;Cuscó I;Tizzano EF
通讯作者：
Tizzano EF
影响因子：
2.8
作者：
Dangouloff, Tamara;Burghes, Arthur;Servais, Laurent
通讯作者：
Servais, Laurent
影响因子：
3.3
作者：
Vill, Katharina;Koelbel, Heike;Mueller-Felber, Wolfgang
通讯作者：
Mueller-Felber, Wolfgang
影响因子：
3.7
作者：
Dangouloff T;Botty C;Beaudart C;Servais L;Hiligsmann M
通讯作者：
Hiligsmann M