代谢光学相干断层扫描（MetabOCT）：一项寻找代谢组学特征以预测健康线粒体DNA突变携带者中Leber遗传性视神经病变发病的临床试验。
MetabOCT: a clinical trial looking for a metabolomic signature predicting the onset of Leber's hereditary optic neuropathy in healthy MtDNA mutations carriers.
作者信息
Orssaud Christophe, Reynier Pascal
机构信息
Functional Unity of Ophthalmology, Ophthalmological Rare Diseases Center, ERN Eye, Georges Pompidou European Hospital, Paris, France.
Laboratoire de Biochimie et Biologie Moléculaire, Centre Hospitalier Universitaire, Angers, France.
出版信息
Metabolomics. 2025 Sep 9;21(5):134. doi: 10.1007/s11306-025-02328-x.
INTRODUCTION
The definition of Leber's hereditary optic neuropathy (LHON) does not take into account a preclinical phase during which the thickness of retinal nerve fiber layer (RNFL) is increased, prior to optic nerve atrophy, reducing the chances of visual recovery.
OBJECTIVES
Search for a metabolomic signature characterizing this preclinical phase and identify biomarkers predicting the risk of LHON onset.
METHODS AND RESULTS
The blood and tear metabolomic profiles of 90 asymptomatic LHON mutation carriers followed for one year will be explored as a function of RNFL thickness and compared to those of a healthy control.
CONCLUSION
Identifying pre-clinical biomarkers would open a window for clinical trials.
引言
Leber遗传性视神经病变（LHON）的定义未考虑到在视神经萎缩之前视网膜神经纤维层（RNFL）厚度增加的临床前期阶段，这降低了视力恢复的机会。
目的
寻找表征此临床前期阶段的代谢组学特征，并识别预测LHON发病风险的生物标志物。
方法与结果
将对90名无症状LHON突变携带者随访一年，根据RNFL厚度探索其血液和泪液代谢组学特征，并与健康对照者的特征进行比较。
结论
识别临床前生物标志物将为临床试验打开一扇窗。
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