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Biomarkers in Friedreich's Ataxia

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ClinicalTrials.gov Identifier: NCT02497534
Recruitment Status : Recruiting
First Posted : July 14, 2015
Last Update Posted : October 31, 2022
Children's Miracle Network
National Institutes of Health (NIH)
Information provided by (Responsible Party):
University of Florida

Brief Summary:
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.

Condition or disease
Friedreich's Ataxia

Detailed Description:
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.

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Study Type : Observational
Estimated Enrollment : 203 participants
Observational Model: Case-Control
Time Perspective: Cross-Sectional
Official Title: Biomarkers in Friedreich's Ataxia
Study Start Date : September 2015
Estimated Primary Completion Date : June 3, 2023
Estimated Study Completion Date : June 3, 2023

Affected with Friedreich's ataxia
Friedreich's ataxia patients aged 8 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.
Healthy controls
Health controls aged 8 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 an optional blood draw.
Carriers of Friedreich's ataxia
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.

Primary Outcome Measures :
  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.

Information from the National Library of Medicine

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Ages Eligible for Study:   8 Years to 70 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Subjects with Friedreich's ataxia, healthy control subjects, and carriers of Friedreich's ataxia

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 8 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02497534

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Contact: Samantha Norman, MPH, BS 352-273-8218 samantha.norman@peds.ufl.edu

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United States, Florida
University of Florida Recruiting
Gainesville, Florida, United States, 32610
Contact: Mackenzi Coker, MS, CCC-SLP    352-273-8754    mcoker@ufl.edu   
Principal Investigator: Manuela Corti, PT, PhD         
Sub-Investigator: Sub Subramony, MD         
Sponsors and Collaborators
University of Florida
Children's Miracle Network
National Institutes of Health (NIH)
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Principal Investigator: Manuela Corti, PT, PhD University of Florida
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Responsible Party: University of Florida
ClinicalTrials.gov Identifier: NCT02497534    
Other Study ID Numbers: IRB201500369-N
UL1TR000064 ( U.S. NIH Grant/Contract )
First Posted: July 14, 2015    Key Record Dates
Last Update Posted: October 31, 2022
Last Verified: October 2022

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by University of Florida:
Additional relevant MeSH terms:
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Cerebellar Ataxia
Friedreich Ataxia
Neurologic Manifestations
Nervous System Diseases
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Spinocerebellar Degenerations
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Mitochondrial Diseases
Metabolic Diseases