Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2019 Jun 28;5(6):FSO398.
doi: 10.2144/fsoa-2019-0026.

The current state of biomarker research for Friedreich's ataxia: a report from the 2018 FARA biomarker meeting

Ian A Blair  1 , Jennifer Farmer  2 , Steven Hersch  3 , Jane Larkindale  2 , David R Lynch  4 , Jill Napierala  5 , Marek Napierala  5 , R Mark Payne  6 , Sub H Subramony  7
Affiliations
Review

The current state of biomarker research for Friedreich's ataxia: a report from the 2018 FARA biomarker meeting

Ian A Blair et al. Future Sci OA. .

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.

Keywords: Friedreich’s ataxia; biomarkers; drug development.

PubMed Disclaimer

Conflict of interest statement

Financial & competing interests disclosure The Friedreich’s Ataxia Research Alliance sponsored and funded the 2019 FARA Biomarker Meeting, with support from several companies. SH Subramony receives financial support from Reata, Takeda, Biohaven, Acceleron. Advisory board participation with Reata and Avexis. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. No writing assistance was utilized in the production of this manuscript.

Figures

Figure 1.
Figure 1.. The structure of frataxin protein.
Full-length frataxin (1–210, yellow, gray, cyan, green), intermediate form-1 (42–210, gray, cyan, green), intermediate form-2 (55–210, cyan, green), mature frataxin (81–210, green) and isoform E (76–210, brown). MPP: Mitochondrial processing peptidase, which cleaves at the R-2 sites.
Figure 2.
Figure 2.. Role of biomarkers in the development of therapies for Friedreich’s ataxia.
Biomarkers are in development for many different contexts of use in FA. CKC: Corticokinematic coherence; crCEST: Creatine chemical exchange saturation transfer; FARS: Friedreich’s Ataxia Rating Scale; FXN: Frataxin; NFL: Neurofilament light; mRNA: Messenger ribonucleic acid; QST: Quantitative sensory testing; SARA: Scale for assessment and rating of ataxia.
See this image and copyright information in PMC

References

    1. Delatycki MB, Wiliamson R, Forrest SM. Friedreich ataxia: an overview. J. Med. Genet. 37(1), 1–8 (2000). - PMC - PubMed
    1. Patel M, Isaacs CJ, Seyer L. et al. Progression of Friedreich ataxia: quantitative characterization over 5years. Ann. Clin. Transl. Neurol. 3(9), 684–694 (2016). - PMC - PubMed
    1. Reetz K, Dogan I, Hohenfeld C. et al. Nonataxia symptoms in Friedreich ataxia: report from the registry of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS). Neurology 91(10), 917–930 (2018). - PubMed
    1. Tai G, Yiu EM, Delatycki MB, Corben LA. How does performance of the Friedreich ataxia functional composite compare to rating scales? J. Neurol. 264(8), 1768–1776 (2017). - PubMed
    1. Friedman LS, Farmer JM, Perlman S. et al. Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design. Mov. Disord. 25(4), 426–432 (2010). - PMC - PubMed

LinkOut - more resources