Friedreich Ataxia Clinical Outcome Measures: Natural History Evaluation in 410 Participants

• Type of Material: Article
• Authors: Sean R. Regner, University of Pennsylvania; Nicholas Wilcox, Children's Hospital of Philadelphia; Lisa S. Friedman, University of Pennsylvania; Lauren Seyer, University of Pennsylvania; Kim Schadt, University of Pennsylvania; Karlla W. Brigatti, University of Pennsylvania; Susan Perlman, University of California Los Angeles; Martin Delatycki, Murdoch Children’s Research Institute; George (Chip) Wilmot, Emory University; Christopher M. Gomez, University of Chicago; Khalaf O. Bushara, University of Minnesota; Katherine D. Mathews, University of Iowa; S.H. Subramony, University of Florida; Tetsuo Ashizawa, University of Florida; Bernard Ravina, University of Rochester; Alicia Brocht, University of Rochester; Jennifer M. Farmer, University of Pennsylvania; David R. Lynch, University of Pennsylvania
• Language: English
• Date: 2012-09-01
• Publisher: SAGE Publications (UK and US)
• Publication Version: Author Accepted Manuscript (After Peer Review)
• Copyright Statement: © 2012 The Author(s).
• Final Published Version (URL): http://dx.doi.org/10.1177/0883073812448462
• Title of Journal or Parent Work: Journal of Child Neurology
• ISSN: 0883-0738
• Volume: 27
• Issue: 9
• Start Page: 1152
• End Page: 1158
• Grant/Funding Information: Supported by grants from the National Institutes of Health (2R13NS040925-14 Revised), the National Institutes of Health Office of Rare Diseases Research, the Child Neurology Society, and the National Ataxia Foundation.; The work was supported by grants from the Muscular Dystrophy Association and the Friedreich Ataxia Research Alliance.
• Keywords: Clinical Neurology; Friedreich ataxia; Neurosciences & Neurology; IDEBENONE; noninterventional study; natural history study; TRIPLET-REPEAT EXPANSION; Science & Technology; TRIAL; THERAPY; Life Sciences & Biomedicine; Pediatrics
• Research Categories: Biology, Neuroscience

Abstract

Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized by ataxia, dysarthria, and areflexia. The authors report the progress of a large international noninterventional cohort (n = 410), tracking the natural history of disease progression using the neurologic examination-based Friedreich Ataxia Rating Scale. The authors analyzed the rate of progression with cross-sectional analysis and longitudinal analysis over a 2-year period. The Friedreich Ataxia Rating Scale captured disease progression when used at 1 and 2 years following initial evaluation, with a lower ratio of standard deviation of change to mean change over 2 years of evaluation. However, modeling of disease progression identified substantial ceiling effects in the Friedreich Ataxia Rating Scale, suggesting this measure is most useful in subjects before maximal deficit is approached.