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NCT Number: NCT02497534

Biomarkers in Friedreich's Ataxia

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.

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Key information

Conditions

Friedreich's Ataxia Ataxia Brain Diseases Central Nervous System Diseases Cerebellar Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dyskinesias Friedreich Ataxia Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Metabolic Diseases Mitochondrial Diseases Nervous System Diseases Neurodegenerative Diseases Neurologic Manifestations Nutritional and Metabolic Diseases Pathological Conditions, Signs and Symptoms Signs and Symptoms Spinal Cord Diseases Spinocerebellar Degenerations

Age range

6 year–70 year

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Florida

Gainesville, Florida, 32610, United States

Location status: Recruiting

Location contact

Mackenzi Coker, MS, CCC-SLP

CONTACT

[email protected]

352-294-8754

Manuela Corti, PT, PhD

PRINCIPAL_INVESTIGATOR

Sub Subramony, MD

SUB_INVESTIGATOR

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. Cardiac MRI

    Time frame: Baseline and Follow-Up Visits

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

  2. Echocardiogram

    Time frame: Baseline and Follow-Up Visits

    Echocardiogram will be used to characterize cardiac morphology and function.

  3. Friedreich's Ataxia Rating Scale (FARS)

    Time frame: Baseline and Follow-Up Visits

    FARS scores describe specific neurological impairments in FA.

  4. 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.

  5. Scale for the Assessment and Rating of Ataxia (SARA)

    Time frame: Baseline and Follow-Up Visits

    Clinical scale assessing impairment levels in cerebellar ataxia

  6. Muscle Biopsy

    Time frame: Baseline

    The muscle sample will be used to evaluate Frataxin quantification

  7. Skin Biopsy

    Time frame: Baseline

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

  8. 9-Hole-Peg Test

    Time frame: Baseline and Follow-Up Visits

    Assesses upper extremity function and motor coordination.

  9. Pulmonary Function Testing

    Time frame: Baseline and Follow-Up Visits

    Breathing tests to assess lung strength and function.

Study contacts

Contact information is provided by the study sponsor or research team.

Mackenzi Coker, M.S.CCC-SLP

CONTACT

[email protected]

352-294-8754

Sponsors and collaborators

Lead sponsor

University of Florida

Other

Collaborators

  • Children's Miracle Network
  • National Center for Advancing Translational Sciences (NCATS)
  • National Institutes of Health (NIH)

Registry information

Important dates

Study start
2015
Primary completion
2030
Study completion
2030
First posted
Jul 14, 2015
Registry last updated
Sep 23, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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