Abstract
The 2018 FARA Biomarker Meeting highlighted the current state of development of biomarkers for Friedreich’s ataxia. A mass spectroscopy assay to sensitively measure mature frataxin (reduction of which is the root cause of disease) is being developed. Biomarkers to monitor neurological disease progression include imaging, electrophysiological measures and measures of nerve function, which may be measured either in serum and/or through imaging-based technologies. Potential pharmacodynamic biomarkers include metabolic and protein biomarkers and markers of nerve damage. Cardiac imaging and serum biomarkers may reflect cardiac disease progression. Considerable progress has been made in the development of biomarkers for various contexts of use, but further work is needed in terms of larger longitudinal multisite studies, and identification of novel biomarkers for additional use cases
Highlights
We summarize data that were presented on the most promising biomarkers, their proposed contexts of use and conclusions on what is needed to further develop such markers for drug development
They examined 26 Friedreich ataxia (FA) subjects, and 10 controls by cardiac MRI (cMRI) T1 mapping to determine the state of myocardial interstitial fibrosis and cardiomyocyte hypertrophy, termed Tau or τic, and correlated this with the Friedreich’s Ataxia Rating Scale (FARS) scores determined at that time
Considerable progress has been made in the development of biomarkers for FA for various contexts of use (Figure 2)
Summary
Would not reflect the change in mitochondrial FXN levels. To overcome this problem, a dipstick immunoassay approach was developed for the analysis of mitochondrially-derived mature FXN in platelets [10,11,12,13,14,12]. Paola Giunti’s team from University College London, reported similar results in a poster presentation, showing increased NFL levels in a different cohort of FA patients, as well as increased levels of glial fibrillary acidic protein and ubiquitin C-terminal hydrolase L1, markers of neurodegeneration [30] This type of quantifiable molecular marker that reads out affected tissue pathology from blood is attractive because of the possibility for use in large multicenter cohorts and centralized analyses and if validated, will be less expensive than imaging. Marcondes Franca (University of Campinas, Brazil) presented imaging data looking at left ventricular myocardial remodeling in patients with FA In this study, they examined 26 FA subjects, and 10 controls by cMRI T1 mapping to determine the state of myocardial interstitial fibrosis and cardiomyocyte hypertrophy, termed Tau or τic, and correlated this with the FARS scores determined at that time. The use of home-based wearable devices should be explored in a similar fashion
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