Echaniz-Laguna Andoni, Magy Laurent, Vicino Alex, Fayolle Damien, Hübers Annemarie, Ochsner François, Théaudin Marie
Service de neurologie, Centre de référence national pour les neuropathies rares, CHU de Bicêtre, 78, rue du Général-Leclerc, 94270 Le Kremlin-Bicêtre, France.
Université Paris-Saclay, 3, rue Joliot-Curie, 91190 Gif-sur-Yvette, France.
Rev Med Suisse. 2022 Apr 27;18(779):813-816. doi: 10.53738/REVMED.2022.18.779.813.
Hereditary neuropathies have been the subject of recent major therapeutic advances. Treatments based on antisense oligonucleotides (ASO) and small interfering RNA (siRNA) have been developed and are now commercially available to treat hereditary transthyretin amyloidosis (hTTR) and porphyria. More recently, a CRISPR-Cas9 genomic editing treatment targeting the TTR gene has been developed and is being tested in patients with hTTR. Based on their success in hTTR and porphyria, innovative treatments targeting mRNA and DNA are being evaluated in other hereditary neuropathies, including Charcot-Marie-Tooth disease (CMT).
遗传性神经病是近期重大治疗进展的主题。基于反义寡核苷酸（ASO）和小干扰RNA（siRNA）的治疗方法已经开发出来，目前可用于治疗遗传性转甲状腺素蛋白淀粉样变性（hTTR）和卟啉病。最近，一种靶向TTR基因的CRISPR-Cas9基因组编辑治疗方法已经开发出来，并正在hTTR患者中进行测试。基于它们在hTTR和卟啉病治疗中的成功，针对信使核糖核酸（mRNA）和脱氧核糖核酸（DNA）的创新治疗方法正在其他遗传性神经病中进行评估，包括夏科-马里-图斯病（CMT）。
