Studies Of Hereditary Neurological Disease: Clinical Trials

该研究项目的目的是为遗传性神经系统疾病开发安全有效的治疗方法。过去一年的具体研究成果包括：（1）进一步分析了高剂量艾地苯醌治疗弗里德赖希共济失调的2期研究结果，（2）分析了脊髓和延髓肌萎缩（SBMA，肯尼迪病）的横断面研究结果，以及（3）完成了2期临床试验，以测试度他雄胺治疗SBMA的可行性。 Friedreich的艾地苯醌试验显示，在非卧床受试者中，中剂量和高剂量治疗具有神经学疗效。SBMA度他雄胺试验也显示了疗效的证据，尽管主要结局指标，定量肌肉测试，没有显示出显着的益处。

The purpose of this research program is to develop safe and effective treatments for hereditary neurological disorders. Specific research accomplishments in the past year include the following: (1) further analysis of the results of a phase 2 study of high dose idebenone treatment for Friedreich's ataxia, (2) analysis of the results of a cross sectional study of spinal and bulbar muscular atrophy (SBMA, Kennedy's disease), and (3) completion of a phase 2 clinical trial to test the feasibility of dutasteride treatment for SBMA. The Friedreich's idebenone trial showed evidence of neurological efficacy with intermediate and high dose treatment in ambulatory subjects. The SBMA dutasteride trial also showed evidence of efficacy, although the primary outcome measure, quantitative muscle testing, did not show a significant benefit.