Kotulska Katarzyna, Jozwiak Sergiusz, Jedrzejowska Maria, Gos Monika, Ogrodnik Magdalena, Wysocki Jacek, Czajka Hanna, Kuchar Ernest
Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland.
Research Department, The Children's Memorial Health Institute, Warsaw, Poland.
Front Neurol. 2022 Nov 23;13:890860. doi: 10.3389/fneur.2022.890860. eCollection 2022.
Spinal muscular atrophy (SMA) affects one in 7,500-10,000 newborns. Before the era of disease-modifying therapies, it used to be the major genetic cause of mortality in infants. Currently, there are three therapies approved for SMA, including two molecules modifying the splicing of the SMN2 gene and one gene therapy providing a healthy copy of the SMN gene with a viral vector. The best effects of any of these therapies are achieved when the treatment is administered in the presymptomatic stage of the disease, therefore newborn screening programs are being introduced in many countries. Patients identified in newborn screening might be eligible for gene therapy. However, gene therapy and the associated administration of steroids in newborns might interfere with the vaccination schedule, which includes live immunization against tuberculosis in some countries. The timing of gene therapy in patients who received live vaccinations has not yet been addressed neither in the clinical trials nor in the existing international guidelines. The Polish Vaccinology Association has developed the first recommendations for gene therapy administration in newborns who received live vaccination against tuberculosis. Their statement was implemented in the current guidelines for Polish SMA patients identified in the newborn screening program and might be helpful for medical professionals in other countries where live vaccine against tuberculosis is still in routine use in newborns.
脊髓性肌萎缩症（SMA）在7500至10000名新生儿中影响1人。在疾病修正疗法时代之前，它曾是婴儿死亡的主要遗传原因。目前，有三种疗法被批准用于SMA，包括两种修饰SMN2基因剪接的分子和一种通过病毒载体提供SMN基因健康拷贝的基因疗法。当在疾病的症状前阶段进行治疗时，这些疗法中的任何一种都能取得最佳效果，因此许多国家正在引入新生儿筛查项目。在新生儿筛查中被识别出的患者可能有资格接受基因疗法。然而，基因疗法以及在新生儿中相关的类固醇给药可能会干扰疫苗接种计划，在一些国家，该计划包括针对结核病的活疫苗接种。在接受过活疫苗接种的患者中进行基因疗法的时机，在临床试验和现有的国际指南中均未得到解决。波兰疫苗学协会针对接受过结核病活疫苗接种的新生儿制定了首个基因疗法给药建议。他们的声明已被纳入波兰新生儿筛查项目中识别出的SMA患者的现行指南，并且可能对其他国家仍在新生儿中常规使用结核病活疫苗的医疗专业人员有所帮助。
