Hagenacker T, Schara-Schmidt U, Kleinschnitz C
Universitätsmedizin Essen, Klinik für Neurologie und Center for Translational Neuro- and Behavioral Science, Hufelandstr. 55, 45147, Essen, Deutschland.
Universitätsmedizin Essen, Klinik für Kinderheilkunde 1, Abteilung für Neuropädiatrie, Essen, Deutschland.
Nervenarzt. 2022 Jun;93(6):549-556. doi: 10.1007/s00115-022-01295-1. Epub 2022 May 6.
The 5q-associated spinal muscular atrophy (SMA) affects ~ 80-120 newborns annually. The disease is characterized by progressive paresis involving the bulbar and respiratory musculatures. The phenotypes are very heterogeneous ranging from severe courses with early death in the first years of life to loss of gait in older age.
There are now an increasing number of causally targeted therapies available that can either directly interfere with the transcription of the gene causing the disease or replace the homozygous loss of the SMN1 gene. This work aims to elucidate the current state of therapy in different groups of patients with SMA.
Presentation of clinical trials and basic studies with a focus on patients with disease onset in adulthood.
The clinical studies all show improvement or stabilization of motor function; however, in individual cases, the burden of the therapy for severely immobilized patients must be considered in addition to the efficacy in the treatment decision. Even if the drugs show a good safety profile, observations on the long-term efficacy and safety of the new substance classes are still lacking.
The study landscape shows a good efficacy of the currently approved therapies across all degrees of severity and age groups. Due to the lack of comparative studies, the decision on the appropriate therapy should therefore be made according to an individual risk-benefit assessment.
5q相关的脊髓性肌萎缩症（SMA）每年影响约80 - 120名新生儿。该疾病的特征是进行性麻痹，累及延髓和呼吸肌。其表型非常异质，从生命最初几年早期死亡的严重病程到老年时步态丧失不等。
目前有越来越多的因果靶向疗法，它们要么直接干扰致病基因的转录，要么替代SMN1基因的纯合缺失。这项工作旨在阐明不同组SMA患者的当前治疗状况。
介绍以成年发病患者为重点的临床试验和基础研究。
临床研究均显示运动功能有改善或稳定；然而，在个别情况下，除了疗效之外，在治疗决策中还必须考虑严重行动不便患者的治疗负担。即使这些药物显示出良好的安全性，但仍缺乏对新物质类别的长期疗效和安全性的观察。
研究情况表明，目前批准的疗法在所有严重程度和年龄组中均显示出良好疗效。由于缺乏比较研究，因此应根据个体风险效益评估来决定合适的治疗方法。
