Forloni Gianluigi, Tettamanti Mauro, Lucca Ugo, Albanese Yasmin, Quaglio Elena, Chiesa Roberto, Erbetta Alessandra, Villani Flavio, Redaelli Veronica, Tagliavini Fabrizio, Artuso Vladimiro, Roiter Ignazio
a Department of Neuroscience, IRCCS, Istituto di Ricerche Farmacologiche "Mario Negri" Milano , Milano , Italy ;
Prion. 2015;9(2):75-9. doi: 10.1080/19336896.2015.1027857.
The text describes a preventive clinical trial with drug treatment in a very rare neurodegenerative disease (Fatal familial Insomnia, FFI) designed with the help of individuals at genetic risk of developing the disease, asymptomatic carriers, who have agreed to be exposed over a 10-year period to doxycycline, an antibiotic with anti-prion activity. At least 10 carriers of the FFI mutation over 42 y old will be treated with doxycycline (100 mg/die) and the incidence of the disease will be compared to that of an historical dataset. For ethical reasons a randomized, double-blind, placebo-controlled trial was not feasible, however the study design and the statistical analysis ensure the scientific value of the results. This approach might represent an important breakthrough in terms of potential therapy and knowledge of rare diseases that could give some hopes to these neglected patients.
本文描述了一项针对一种非常罕见的神经退行性疾病（致死性家族性失眠症，FFI）的预防性临床试验，该试验在有患该疾病遗传风险的个体（无症状携带者）的帮助下设计，这些携带者已同意在10年期间接受具有抗朊病毒活性的抗生素强力霉素治疗。至少10名42岁以上的FFI突变携带者将接受强力霉素治疗（100毫克/天），并将疾病发病率与历史数据集进行比较。出于伦理原因，随机、双盲、安慰剂对照试验不可行，然而研究设计和统计分析确保了结果的科学价值。这种方法可能代表了在罕见病潜在治疗和知识方面的一项重要突破，有望给这些被忽视的患者带来一些希望。
