An observational study in Friedreich's Ataxia, sponsored by University of Florida. Recruiting at 1 site in United States. Open to participants aged 6 Years to 70 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-10-06.
Sponsored by University of Florida · Observational
The purpose of this project is to characterize measures of cardiac performance and neuromuscular physiology in FA patients using novel techniques, including echocardiography and magnetic resonance imaging (MRI), metabolic exercise testing, and neurophysiological outcomes.
Friedreich's ataxia (FA) is an autosomal recessive disease caused by a mutation in the frataxin gene (FXN). Although rare, FA is the most common form of hereditary ataxia, affecting 1 in every 50,000 people in the United States. Currently, palliative therapies are the only treatment for FA patients. However, current gene therapy efforts in other neuromuscular diseases have positioned the investigator's research program to extend these discoveries and techniques to FA. As new therapies become available for clinical application, it is crucial to identify non-invasive outcomes measures of cardiac and neuromuscular performance with adequate sensitivity to detect the impact of treatments.
110 studies on the registry are indexed under Friedreich Ataxia; 27 are open to participants now.
This study's planned enrollment of 203 is above the median of 70 across 31 observational studies indexed under Friedreich Ataxia.
Browse Friedreich Ataxia studies →University of Florida is the lead sponsor of 1,287 studies on the registry; 199 are open to participants now.
Of its 180 completed or terminated interventional studies of FDA-regulated products, 143 (79%) have results posted.
Counted across the registry records on this site, refreshed daily.
Subjects with Friedreich's ataxia, healthy control subjects, and carriers of Friedreich's ataxia
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Friedreich's ataxia patients aged 6 to 70 (inclusive). Assessments will include collection of genetic mutation reports, cardiac and exercise MRI, echocardiogram, the Friedreich's Ataxia Rating Scale (FARS), exercise testing with a recombinant bike and/or hand ergometer, pulmonary function testing, and gait analysis. Optional labs include a blood draw, skin biopsy, and/or muscle biopsy.
Health controls aged 6 to 70 (inclusive). Assessments will include cardiac and exercise MRI, echocardiogram, the Friedreich's Ataxia Rating Scale (FARS), exercise testing, hand ergometer for exercise testing, pulmonary function testing, gait analysis, and optional blood draws and/or muscle/skin biopsies
An obligate carrier aged 18 to 70 (inclusive) of the abnormal Friedreich's ataxia gene by being a parent of a child with Friedreich's ataxia. No assessments are to be conducted. Optional labs include a blood draw, skin biopsy, and/or muscle biopsy.
Cardiac MRI
Cardiac MRI will be used to characterize cardiac morphology and function.
Time frame: Baseline and Follow-Up Visits
Echocardiogram
Echocardiogram will be used to characterize cardiac morphology and function.
Time frame: Baseline and Follow-Up Visits
Friedreich's Ataxia Rating Scale (FARS)
FARS scores describe specific neurological impairments in FA.
Time frame: Baseline and Follow-Up Visits
Metabolic exercise testing
Metabolic exercise testing will be performed on either a recumbent bike or hand ergometer and will measure the maximal amount of exercise the subject is able to perform.
Time frame: Baseline and Follow-Up Visits
Scale for the Assessment and Rating of Ataxia (SARA)
Clinical scale assessing impairment levels in cerebellar ataxia
Time frame: Baseline and Follow-Up Visits
Muscle Biopsy
The muscle sample will be used to evaluate Frataxin quantification
Time frame: Baseline
Skin Biopsy
Analyses to peripheral tissue used to find out how Friedreich's Ataxia develops.
Time frame: Baseline
9-Hole-Peg Test
Assesses upper extremity function and motor coordination.
Time frame: Baseline and Follow-Up Visits
Pulmonary Function Testing
Breathing tests to assess lung strength and function.
Time frame: Baseline and Follow-Up Visits
Started Sep 2015 (actual). Primary completion is estimated for Jun 2030, 176 months after the start.
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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