title: Measuring disease progression in giant axonal neuropathy: implications for clinical trial design.
abstract: As part of a natural history study of giant axonal neuropathy, we hypothesized that the Friedreich Ataxia Rating Scale and the Gross Motor Function Measure would show a significant change over 6 months, reflecting subjects' decline in motor function. The Friedreich Ataxia Rating Scale was performed on 11 subjects and the Gross Motor Function Measure was performed on 10 subjects twice with a six-month interval. A paired two-tailed t-test was used to assess the difference in each subject's score. Significant changes were found over six months of 11.7 ± 11.0 (P = 0.006) for the Friedreich Ataxia Rating Scale and -10.0 ± 13.5 (P = 0.043) for the Gross Motor Function Measure, reflecting subjects' decline in motor function on examination and by report. These standardized assessments of clinical function are the first to be validated in giant axonal neuropathy and will be used in an upcoming gene therapy clinical trial.
authors.affiliation: Division of Pediatric Neurology, Department of Neurology, Columbia University Medical Center, New York, NY, USA lr2253@columbia.edu.
authors.forename: Lisa A
authors.initials: LA
authors.lastname: Roth
authors.affiliation: Division of Pediatric Neurology, Department of Neurology, Columbia University Medical Center, New York, NY, USA.
authors.forename: Jonathan D
authors.initials: JD
authors.lastname: Marra
authors.affiliation: Division of Pediatric Neurology, Department of Neurology, Columbia University Medical Center, New York, NY, USA.
authors.forename: Nicole H
authors.initials: NH
authors.lastname: LaMarca
authors.affiliation: Division of Pediatric Neurology, Department of Neurology, Columbia University Medical Center, New York, NY, USA.
authors.forename: Douglas M
authors.initials: DM
authors.lastname: Sproule
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D005621:Friedreich Ataxia / Q000175:diagnosis* / Q000503:physiopathology; D056768:Giant Axonal Neuropathy / Q000175:diagnosis* / Q000503:physiopathology*; D006801:Humans; D008297:Male; D009043:Motor Activity; D009460:Neurologic Examination / Q000379:methods*; D011237:Predictive Value of Tests; D015203:Reproducibility of Results; D012107:Research Design; D055815:Young Adult
keywords: Friedreich Ataxia Rating Scale; GAN; Gross Motor Function Measure; giant axonal neuropathy; outcome measures