NCT02497534 · University of Florida
Biomarkers in Friedreich's Ataxia
What this study is about
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.
View original scientific description
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.
Primary outcome measures
Cardiac MRI
Time frame: Baseline and Follow-Up Visits
Cardiac MRI will be used to characterize cardiac morphology and function.
Echocardiogram
Time frame: Baseline and Follow-Up Visits
Echocardiogram will be used to characterize cardiac morphology and function.
Friedreich's Ataxia Rating Scale (FARS)
Time frame: Baseline and Follow-Up Visits
FARS scores describe specific neurological impairments in FA.
Metabolic exercise testing
Time frame: Baseline and Follow-Up Visits
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.
Scale for the Assessment and Rating of Ataxia (SARA)
Time frame: Baseline and Follow-Up Visits
Clinical scale assessing impairment levels in cerebellar ataxia
Muscle Biopsy
Time frame: Baseline
The muscle sample will be used to evaluate Frataxin quantification
Skin Biopsy
Time frame: Baseline
Analyses to peripheral tissue used to find out how Friedreich's Ataxia develops.
9-Hole-Peg Test
Time frame: Baseline and Follow-Up Visits
Assesses upper extremity function and motor coordination.
Pulmonary Function Testing
Time frame: Baseline and Follow-Up Visits
Breathing tests to assess lung strength and function.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
Inclusion criteria
- Genetic diagnosis of Friedreich's ataxia by DNA sequencing, mutational analysis or protein assay OR be a healthy subject with no evidence of a neuromuscular disorder
- Between the ages of 6 and 70 (inclusive)
- Are able to tolerate metabolic exercise testing
- Are stable on cardiac medication regimen for 3 months prior to screening
Exclusion criteria
- Presence of unstable heart disease
- Receipt of cardiac transplant
- Any concurrent medical condition which, in the opinion of the investigators, would make the subject unsuitable for the study
Where
- Gainesville, Florida
Collaborators
Children's Miracle Network, National Institutes of Health (NIH), National Center for Advancing Translational Sciences (NCATS)
Related conditions & keywords
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Sep 23, 2025 · Source of record for eligibility and locations