Studies Of Hereditary Neurological Disease: Clinical Trials

这项研究计划的目的是开发安全有效的遗传性神经疾病治疗方法。过去一年的具体研究成果包括：(1)进一步分析大剂量艾地苯酮治疗Friedreich‘s共济失调的第二阶段研究结果，(2)分析脊髓和延髓肌肉萎缩(SBMA，肯尼迪病)的横断面研究结果，以及(3)完成第二阶段临床试验，以测试Dutasteride治疗SBMA的可行性。 Friedreich的艾地苯酮试验显示，在非卧床受试者中，中剂量和高剂量治疗具有神经学疗效的证据。SBMA Dutasteride试验也显示出疗效的证据，尽管主要的结果衡量标准-定量肌肉测试并没有显示出显著的好处。

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.