科研之友
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摘要
Introduction: Biomarkers are characteristics measured as indicators of normal biological processes. Inborn errors of metabolism (IEMs) are associated with neurological symptoms. In this setting, unique disease or process specific biomarkers show promise to identify symptomatic and presymptomatic disease and/or provide surrogate end-points to demonstrate clinical efficacy of new treatments, such as neuroprotective agents.Areas covered: Neuroimaging can interrogate brain structure, biochemistry and networks noninvasively. Because the pathophysiologic process underlying cognitive and neurological decline in a number of IEMs involves progressive neurodegeneration of selective brain regions, repeatable, noninvasive in vivo neuroimaging measures of brain anatomy, chemistry, physiology, and pathology are promising as a class of potential biomarkers. Multimodal neuroimaging allows complementary information, each of which addresses a different aspect of pathology, function or biochemistry. It is critical to understand their uses and limitations. We discuss the utility of biomarkers in the context of our work in urea cycle disorders.Expert commentary: Because of the frequency of hyperammonemic injury in this condition, noninvasive measures to assess neurological function must be developed. Neuroimaging continues to gain credibility as a primary outcome for clinical trials and the technology continues to advance. Methods for standardization across sites will enable more efficient study of rare disorders.
- 出版日期2016-11
