A Review of Friedreich Ataxia Clinical Trial Results

作者：Perlman Susan L^*

来源：Journal of Child Neurology, 2012, 27(9): 1217-1222.

DOI：10.1177/0883073812453872

• Friedreich ataxia
• clinical trials
• treatment
• frataxin

There are now 21 agents or classes of therapeutic agents in the Friedreich ataxia research pipeline (http://www.curefa.org/pipeline.html) that have been developed in the 15 years since the discovery of the frataxin gene, with the ongoing characterization of its mutations and the resulting molecular pathology. Twenty-four studies are currently posted on ClinicalTrials.gov. Twenty-seven works discussing the results of clinical trials in Friedreich ataxia have been published. In 2010, 42 public (National Institutes of Health) and private (Friedreich Ataxia Research Alliance, Muscular Dystrophy Association, and National Ataxia Foundation) grants were funded for translational and clinical research in Friedreich ataxia. Millions of dollars from public, private, and industry-based initiatives have been dedicated to research in Friedreich ataxia therapeutics. Despite this vigorous international effort, there is as yet no proven disease-modifying therapy for Friedreich ataxia.

• 出版日期2012-9