Mühlbäck A, Lindenberg K S, Saft C, Priller J, Landwehrmeyer G B
Abteilung Neurologie, Universitätsklinikum Ulm, Oberer Eselsberg 45/1, 89081, Ulm, Deutschland.
Klinik für Neurologie und Zentrum für klinische Neurowissenschaften, 1. Medizinische Fakultät, Karlsuniversität, Prag, Tschechien.
Nervenarzt. 2020 Apr;91(4):303-311. doi: 10.1007/s00115-020-00882-4.
In Germany at least 8000 and probably up to ca. 14,000 people currently suffer from clinically manifest Huntington's disease (HD). In addition, an estimated 24,000 Germans carry the HD mutation in the huntingtin (HTT) gene and will develop HD during their lifetime. Although HD is a rare neurodegenerative disease, it is currently in the focus of general medical interest: clinical trials have begun that provide a rational basis for hope to slow down the so far relentless progression of the disease, ultimately resulting in patients becoming entirely dependent on nursing care. If treatment is started early enough it may be possible to mitigate the clinical manifestation of HD. These innovative therapeutic approaches aim at inhibiting the de novo production of mutant HTT gene products. A first clinical drug trial to demonstrate the efficacy (phase III) of intrathecal antisense oligonucleotides (ASO, active substance RG6042) was started in 2019. Additional clinical studies on alternative treatment approaches with allele-selective ASOs as well as gene therapeutic approaches using RNA molecules and zinc finger repressor complexes are imminent. This article gives an overview of the current gene-selective therapeutic approaches in HD under discussion.
在德国,目前至少有8000人,可能多达约14000人患有临床症状明显的亨廷顿舞蹈症(HD)。此外,估计有24000名德国人携带亨廷顿蛋白(HTT)基因中的HD突变,他们将在一生中患上HD。尽管HD是一种罕见的神经退行性疾病,但它目前是普通医学关注的焦点:临床试验已经开始,为减缓这种迄今为止无法阻挡的疾病进展带来了合理的希望基础,最终导致患者完全依赖护理。如果治疗开始得足够早,有可能减轻HD的临床表现。这些创新的治疗方法旨在抑制突变HTT基因产物的从头产生。一项首次证明鞘内注射反义寡核苷酸(ASO,活性物质RG6042)疗效的临床药物试验(III期)于2019年启动。关于使用等位基因选择性ASO的替代治疗方法以及使用RNA分子和锌指阻遏复合物的基因治疗方法的其他临床研究即将开展。本文概述了目前正在讨论的HD基因选择性治疗方法。