129P 波兰新生儿脊髓性肌萎缩症筛查--3 年经验总结

IF 2.7 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders Pub Date : 2024-10-01 DOI:10.1016/j.nmd.2024.07.036

M. Gos , J. Wasiluk , A. Landowska , M. Jurzyk , W. Wawer , P. Kubiszyn , J. Wieczorek , O. Kordowska , L. Nosarieva , K. Durda , M. Fraczyk , M. Jedrzejowska , M. Ołtarzewski

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引用次数: 0

摘要

脊髓性肌萎缩症（SMA）是一种罕见的疾病，在波兰约有1/7000-8000人患有该病。该病可以通过现有的靶向药物如nusinersen、onasemnogene abeparvovec和risdiplam成功治疗，这些药物都是由公共基金为每位SMA患者提供的。SMA 新生儿筛查于 2022 年 3 月开始实施，此后作为国家新生儿筛查计划的一部分在全国范围内实施。在此，我们将介绍作为国家新生儿筛查计划常规组成部分的 SMA 筛查的三年经验。新生儿 SMA 筛查作为一项基因检测并不是强制性的，家长必须同意进行分子检测（选择加入）。采用标准干血斑提取 DNA，并使用基于 PCR-HRM 的测试（SALSA MC002 SMA 新生儿筛查测试，荷兰 MRC）进行筛查。在一级检测结果呈阳性后，我们采用 MLPA 技术（P021 试剂盒，荷兰 MRC）进行后续检测。3 年间，超过 75 万名新生儿接受了筛查，101 名儿童在地区儿童神经诊所确诊为 SMA。新生儿出生后第 8 天（平均值：8.5±3.7；在中央数据库登记后 3 天）即可获得一级检测结果和血斑 MLPA 验证结果。第 14 天（平均值：14.7±5.0；登记后 9 天），验证测试结果出炉。约 70% 的确诊患者无症状，其他患者有轻微的疾病症状。3名有1个SMN2拷贝的患儿表现为SMA0。如果患者携带1至3个SMN2拷贝（分别为2名、27名和39名儿童），则会尽快进行治疗。平均而言，治疗从出生后第 22 天开始。新生儿 SMA 筛查已在波兰成功实施，并成为常规筛查的一部分。我们的筛查程序可快速识别出可从靶向治疗中获益的 SMA 患者。根据人口数据，SMA 的患病率估计为 ≈1/7500。

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129P Newborn screening for spinal muscular atrophy in Poland – a summary of 3-year experience

Spinal muscular atrophy (SMA) is a rare disorder that affects about 1/7000-8000 people in Poland.

The disease can be successfully treated with available targeted drugs such as nusinersen, onasemnogene abeparvovec and risdiplam that are available from public funds for every SMA patient. The newborn screening for SMA has been implemented in March 2022 and since then it was implemented in whole country as a part of National Newborn Screening Programme. Herein, we present our three-year experience with SMA as a routine part of NBS. Newborn screening for SMA as a genetic test is not obligatory and parents have to consent for molecular testing (opt-in). Standard dried blood spots are used for DNA extraction and a PCR-HRM based test (SALSA MC002 SMA Newborn Screen test, MRC-Holland) is used for screening. After the positive result of first-tier test, we perform follow-up testing with MLPA technique (P021 kit, MRC-Holland). During 3 years, over 750 000 newborns were screened and SMA has been confirmed in 101 children that were admitted to regional children neurological clinics. The results of the first-tier test and MLPA verification from blood spot were ready on the 8th day of life (mean: 8.5±3.7; 3 days since registration in the central database). On the day 14th (mean 14.7±5.0; 9 days since registration), the results of the verification test were available. About 70% of diagnosed patients were asymptomatic, others presented mild symptoms of the disease. Three children with 1 SMN2 copy presented with SMA0. The treatment was implemented as soon as possible if patients were carrying from 1 to 3 SMN2 copies (2, 27 and 39 children, respectively). On average, therapy was started at 22nd day of life. The newborn screening for SMA was successfully implemented in Poland and became a part of the routine screening. Our procedure allows for quick identification of SMA patients that would benefit from targeted therapies. Based on the population data, the prevalence of SMA can be estimated at ≈1/7500.

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来源期刊

Neuromuscular Disorders 医学-临床神经学

CiteScore

4.60

自引率

3.60%

发文量

543

审稿时长

53 days

期刊介绍： This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies). The Editors welcome original articles from all areas of the field: • Clinical aspects, such as new clinical entities, case studies of interest, treatment, management and rehabilitation (including biomechanics, orthotic design and surgery). • Basic scientific studies of relevance to the clinical syndromes, including advances in the fields of molecular biology and genetics. • Studies of animal models relevant to the human diseases. The journal is aimed at a wide range of clinicians, pathologists, associated paramedical professionals and clinical and basic scientists with an interest in the study of neuromuscular disorders.