Andre Ralph, Scahill Rachael I, Haider Salman, Tabrizi Sarah J
UCL Institute of Neurology, Department of Neurodegenerative Disease, Queen Square, London WC1N 3BG, UK.
UCL Institute of Neurology, Department of Neurodegenerative Disease, Queen Square, London WC1N 3BG, UK.
Drug Discov Today. 2014 Jul;19(7):972-9. doi: 10.1016/j.drudis.2014.03.002. Epub 2014 Mar 12.
Huntington's disease (HD) is a fatal inherited neurodegenerative disorder, treatment to slow the progression of which has not yet been found. Human clinical trials to test a number of therapeutic strategies are underway or imminent, facilitated in part by the recent development of biomarkers that might be used as surrogate endpoints in such trials. However, although much progress in developing HD biomarkers has been made, ongoing work seeks to improve the sensitivity and reliability of current measures, and to demonstrate that they correspond to clear meaningful benefit to patients. Of particular importance is the identification of state biomarkers that can be used in pre-manifest HD gene carriers to test therapies hoped to delay symptom onset in these individuals. Functional, neuroimaging and biochemical biomarkers continue to be investigated for use in the development of disease-modifying treatments of HD.
亨廷顿舞蹈症(HD)是一种致命的遗传性神经退行性疾病,目前尚未找到减缓其病情发展的治疗方法。多项治疗策略的人体临床试验正在进行或即将开展,这在一定程度上得益于近期生物标志物的发展,这些生物标志物可在这类试验中用作替代终点。然而,尽管在开发HD生物标志物方面已取得很大进展,但目前仍在努力提高现有检测方法的灵敏度和可靠性,并证明它们能给患者带来明确且有意义的益处。特别重要的是识别状态生物标志物,可用于对HD致病基因携带者进行症状前检测,以测试有望延缓这些个体症状发作的疗法。功能性、神经影像学和生化生物标志物仍在研究中,以用于开发HD的疾病修饰治疗方法。