Abstract：
BACKGROUND: This study presents the findings of a newborn screening (NBS) pilot project for 5q-spinal muscular atrophy (5q-SMA) in multiple regions across Russia for during the year 2022. The aim was to assess the feasibility and reproducibility of NBS for SMA5q in diverse populations and estimate the real prevalence of 5q-SMA in Russia as well as the distribution of patients with different number of SMN2 copies.
METHODS: The pilot project of NBS here was based on data, involving the analysis of 202,908 newborns. SMA screening assay was performed using a commercially available real-time polymerase chain reaction kit, the Eonis SCID-SMA.
RESULTS: In one year, 202,908 newborns were screened, identifying 26 infants with homozygous deletion of SMN1 exon 7, yielding an estimated 5q-SMA incidence of 1:7804 newborns. It was found that 38.46% had two SMN2 copies, 42.31% had three copies, 15.38% had four copies, and 3.85% had five copies of SMN2. Immediate treatment was proposed for patients with two or three SMN2 copies. Infants with four or more SMN2 copies warranted further investigation on management and treatment. Short-term monitoring after gene therapy showed motor function improvements. Delays in treatment initiation were observed, including the testing for adeno-associated virus 9 antibodies and nonmedical factors.
CONCLUSIONS: The study emphasizes the need for a standardized algorithm for early diagnosis and management through NBS to benefit affected families. Overall, the NBS program for 5q-SMA in Russia demonstrated the potential to improve outcomes and transform SMA from a devastating disease to a chronic condition with evolving medical requirements.
METHODS: The pilot project of NBS here was based on data, involving the analysis of 202,908 newborns. SMA screening assay was performed using a commercially available real-time polymerase chain reaction kit, the Eonis SCID-SMA.
RESULTS: In one year, 202,908 newborns were screened, identifying 26 infants with homozygous deletion of SMN1 exon 7, yielding an estimated 5q-SMA incidence of 1:7804 newborns. It was found that 38.46% had two SMN2 copies, 42.31% had three copies, 15.38% had four copies, and 3.85% had five copies of SMN2. Immediate treatment was proposed for patients with two or three SMN2 copies. Infants with four or more SMN2 copies warranted further investigation on management and treatment. Short-term monitoring after gene therapy showed motor function improvements. Delays in treatment initiation were observed, including the testing for adeno-associated virus 9 antibodies and nonmedical factors.
CONCLUSIONS: The study emphasizes the need for a standardized algorithm for early diagnosis and management through NBS to benefit affected families. Overall, the NBS program for 5q-SMA in Russia demonstrated the potential to improve outcomes and transform SMA from a devastating disease to a chronic condition with evolving medical requirements.
摘要：
背景：这项研究介绍了2022年俄罗斯多个地区5q-脊髓性肌萎缩症（5q-SMA）的新生儿筛查（NBS）试点项目的结果。目的是评估NBS在不同人群中SMA5q的可行性和可重复性，并估计5q-SMA在俄罗斯的实际患病率以及具有不同SMN2拷贝数的患者的分布。
方法：国家统计局的试点项目是基于数据，涉及202,908名新生儿的分析。使用市售的实时聚合酶链反应试剂盒进行SMA筛选测定，EonisSCID-SMA.
结果：一年后，对202,908名新生儿进行了筛查，确定了26例SMN1外显子7纯合缺失的婴儿，估计5q-SMA发生率为1:7804新生儿。发现38.46%有两个SMN2拷贝,42.31%有三份,15.38%有四份,3.85%有5个拷贝的SMN2。建议对具有两个或三个SMN2拷贝的患者立即治疗。具有四个或更多SMN2拷贝的婴儿需要对管理和治疗进行进一步调查。基因治疗后的短期监测显示运动功能改善。观察到治疗开始的延迟，包括腺相关病毒9抗体和非医学因素的检测。
结论：该研究强调需要通过NBS进行早期诊断和管理的标准化算法，以使受影响的家庭受益。总的来说,俄罗斯5q-SMA的NBS计划证明了改善预后并将SMA从破坏性疾病转变为慢性疾病的潜力，并具有不断发展的医疗要求。
方法：国家统计局的试点项目是基于数据，涉及202,908名新生儿的分析。使用市售的实时聚合酶链反应试剂盒进行SMA筛选测定，EonisSCID-SMA.
结果：一年后，对202,908名新生儿进行了筛查，确定了26例SMN1外显子7纯合缺失的婴儿，估计5q-SMA发生率为1:7804新生儿。发现38.46%有两个SMN2拷贝,42.31%有三份,15.38%有四份,3.85%有5个拷贝的SMN2。建议对具有两个或三个SMN2拷贝的患者立即治疗。具有四个或更多SMN2拷贝的婴儿需要对管理和治疗进行进一步调查。基因治疗后的短期监测显示运动功能改善。观察到治疗开始的延迟，包括腺相关病毒9抗体和非医学因素的检测。
结论：该研究强调需要通过NBS进行早期诊断和管理的标准化算法，以使受影响的家庭受益。总的来说,俄罗斯5q-SMA的NBS计划证明了改善预后并将SMA从破坏性疾病转变为慢性疾病的潜力，并具有不断发展的医疗要求。
