Multicenter, prospective, observational natural history and outcome measure study of children and young adults with Friedreich ataxia.
A multicenter, prospective, observational natural history and outcome measure study of children and young adults with Friedreich ataxia to further understand the disease features and progression and inform and enable future clinical trials in children with FA. The study, Understanding the natural history early in the presentation of Friedreich ataxia: evaluating new clinical outcome assessments in children with Friedreich ataxia to facilitate clinical trial design (EARLY-FA), evaluates disease features specific to children and novel biomarkers and outcome measures which leveraging existing clinical research infrastructure and data collection from an established natural history study, UNIFAI.
Study Type
OBSERVATIONAL
No intervention in this observational Natural History Study
No intervention in this observational Natural History Study
University of Iowa, Stead Family Children's Hospital
Iowa City, Iowa, United States
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
St. Jude Children's Research Hospital
Memphis, Tennessee, United States
Murdoch Childrens Research Institute
Parkville, Victoria, Australia
Correlation between growth (height in z-score) and disease severity in FRDA (mFARS score)
Height (cm) will be measured using a wall-mounted stadiometer and univariate analyses will test for Correlation between the height Z-score (after accounting for genetic potential (mid-parental height)) and disease severity (using the standard ataxia scale modified Friedreichs ataxia rating scale (mFARS)). The modified Friedreich Ataxia Rating Scale (mFARS) is a disease-specific scale that measures progression of neurological effects of FA. The mFARS is a validated and reliable scale; comprised of the neurologic component of the FARS and evaluates bulbar, upper limb, lower limb, and upright stability/gait function. For each item, responses categorize the corresponding neurological finding, and the findings are assigned a score ranging from 0 to 3, 4, or 5 with 0 being normal and higher numbers indicative of greater impairment. The score ranges from 0 to 93. The score will be compared to the previous year annually for up to 25 years.
Time frame: Baseline, 12 months, and 24 months
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McGill University Health Centre - Montreal Neurological Institute
Montreal, Quebec, Canada
University Hospital Aachen, Dept. of Neurology
Aachen, Germany
Bambino Gesù Children's Hospital, Department of Neurosciences
Roma, Italy