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

Ian A Blair; Jennifer Farmer; Steven Hersch; Jane Larkindale; David R Lynch; Jill Napierala; Marek Napierala; R Mark Payne; Sub H Subramony

doi:10.2144/fsoa-2019-0026

Future Science OA (Jul 2019)

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

Ian A Blair,
Jennifer Farmer,
Steven Hersch,
Jane Larkindale,
David R Lynch,
Jill Napierala,
Marek Napierala,
R Mark Payne,
Sub H Subramony

Affiliations

Ian A Blair: 1Department of Systems Pharmacology and Translational Therapeutics Perelman School of Medicine, Penn SRP Center and Center of Excellence in Environmental Toxicology Center, University of Pennsylvania, Philadelphia, PA 19104, USA
Jennifer Farmer: 2Friedreich’s Ataxia Research Alliance, 533 W Uwchlan Ave Downingtown, PA 19335, USA
Steven Hersch: 3Voyager Therapeutics, Cambridge, MA 02139, USA
Jane Larkindale: 2Friedreich’s Ataxia Research Alliance, 533 W Uwchlan Ave Downingtown, PA 19335, USA
David R Lynch: 4Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA
Jill Napierala: 5Department of Biochemistry and Molecular Genetics, University of Alabama at Birmingham (UAB), 1825 University Boulevard, Birmingham, AL 35294, USA
Marek Napierala: 5Department of Biochemistry and Molecular Genetics, University of Alabama at Birmingham (UAB), 1825 University Boulevard, Birmingham, AL 35294, USA
R Mark Payne: 6Department of Medicine, Division of Pediatrics, Indiana University, Indianapolis, Indiana, IN 46202, USA
Sub H Subramony: 7Department of Neurology McKnight Brain Institute, University of Florida, Gainesville, FL 32611, USA

DOI: https://doi.org/10.2144/fsoa-2019-0026
Journal volume & issue: Vol. 5, no. 6

Abstract

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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

Published in Future Science OA

ISSN: 2056-5623 (Online)
Publisher: Taylor & Francis Group
Country of publisher: United Kingdom
LCC subjects: Medicine: Medicine (General)
Website: https://www.tandfonline.com/journals/ifso20

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