Delatycki Martin B
Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Victoria, 3052, Australia.
J Neurol. 2009 Mar;256 Suppl 1:36-41. doi: 10.1007/s00415-009-1007-y.
Friedreich ataxia is characterised by slowly progressive neurodegeneration and cardiomyopathy. Currently, no treatments have been proven to delay, prevent, or reverse the inexorable decline that occurs in this condition; however, several pharmaceutical agents are undergoing clinical assessment. Because initial beneficial therapies are likely to slow disease progression rather than reverse morbidity, the need for accurate measurement tools that will detect such subtle benefits is critical. The impact of Friedreich ataxia on the nervous system has been assessed largely through the use of rating scales and functional composite measures, and a number of patient reported outcome measures in Friedreich ataxia have been studied. However, on the basis of published reports on the performance of these measures, none clearly stands out as the best for use in clinical trials. Refinement of existing tools and development of new tools will be needed to maximise the chance of detecting small but clinically significant benefits of therapeutic agents in patients with Friedreich ataxia.
弗里德赖希共济失调的特征是进行性神经退行性变和心肌病。目前，尚无已被证实能延缓、预防或逆转该病不可避免的病情恶化的治疗方法；然而，有几种药物正在进行临床评估。由于最初的有益治疗可能会减缓疾病进展而非逆转发病情况，因此需要准确的测量工具来检测这种细微的益处，这至关重要。弗里德赖希共济失调对神经系统的影响主要通过评分量表和功能综合测量来评估，并且已经对一些弗里德赖希共济失调患者报告的结局测量方法进行了研究。然而，根据已发表的关于这些测量方法性能的报告，没有一种方法明显脱颖而出成为临床试验中最佳的使用方法。需要对现有工具进行改进并开发新工具，以最大程度地提高检测弗里德赖希共济失调患者治疗药物微小但具有临床意义的益处的机会。
