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Observational Study of Biomarkers in Friedreich's Ataxia

This study is looking to better understand Friedreich's Ataxia (FA) by studying how the heart and muscles perform in people with the condition. Researchers will use special tests like echocardiograms (heart ultrasounds) and MRIs (magnetic resonance imaging) to measure heart function, as well as exercise tests and nerve studies. The goal is to find reliable ways to measure how FA affects the body, which could help in testing new treatments in the future. You may be able to join if you have a genetic diagnosis of FA or are a healthy volunteer, are between 6 and 70 years old, and can do exercise testing. The study is currently unclear on its recruitment status.

Study design
This is an observational study, meaning no interventions are given. It aims to enroll 203 participants.
What's involved
You would undergo cardiac MRI, echocardiogram, and Friedreich's Ataxia Rating Scale (FARS) assessments at baseline and follow-up visits.
Compensation
Not stated in the trial record.
Follow-up
Participants will be followed for assessments at baseline and follow-up visits, but the duration of follow-up is not specified.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT02497534

Biomarkers in Friedreich's Ataxia

Recruiting
Not specifiedAges 6–70Observational
University of Florida
~203 participants
Updated 2025-09-23 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Cardiac MRI
Measured over Baseline and Follow-Up Visits
+8 more outcomes measured

Conditions

Friedreich's Ataxia

Explore related trials

Friedreich AtaxiaFrataxin, Mitochondrial

NCT02497534

Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • University of Florida

    Gainesville, Floridastudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Manuela Corti, PT, PhD · PRINCIPAL_INVESTIGATOR · University of Florida

Who to contact

Mackenzi Coker, M.S.CCC-SLP
[email protected]
352-294-8754
Email the study team

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Eligibility criteria

Inclusion

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

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

What this trial measures

  • Cardiac MRIBaseline and Follow-Up Visits

    Cardiac MRI will be used to characterize cardiac morphology and function.

  • EchocardiogramBaseline and Follow-Up Visits

    Echocardiogram will be used to characterize cardiac morphology and function.

  • Friedreich's Ataxia Rating Scale (FARS)Baseline and Follow-Up Visits

    FARS scores describe specific neurological impairments in FA.

  • Metabolic exercise testingBaseline 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)Baseline and Follow-Up Visits

    Clinical scale assessing impairment levels in cerebellar ataxia

  • Muscle BiopsyBaseline

    The muscle sample will be used to evaluate Frataxin quantification

  • Skin BiopsyBaseline

    Analyses to peripheral tissue used to find out how Friedreich's Ataxia develops.

  • 9-Hole-Peg TestBaseline and Follow-Up Visits

    Assesses upper extremity function and motor coordination.

  • Pulmonary Function TestingBaseline and Follow-Up Visits

    Breathing tests to assess lung strength and function.