Biomarkers in Friedreich's Ataxia
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ClinicalTrials.gov Identifier: NCT02497534 |
Recruitment Status :
Recruiting
First Posted : July 14, 2015
Last Update Posted : June 11, 2020
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Condition or disease |
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Friedreich's Ataxia |
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 2021 |
Estimated Study Completion Date : | June 2021 |

Group/Cohort |
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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.
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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.
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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.
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- 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.

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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 |
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

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
Contact: Bryanna Sharot, BS | 352-294-8754 | bsharot@ufl.edu |
United States, Florida | |
University of Florida | Recruiting |
Gainesville, Florida, United States, 32610 | |
Contact: Bryanna Sharot, BS 352-294-8754 bsharot@ufl.edu | |
Principal Investigator: Manuela Corti, PT, PhD | |
Sub-Investigator: Sub Subramony, MD |
Principal Investigator: | Manuela Corti, PT, PhD | University of Florida |
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: | June 11, 2020 |
Last Verified: | June 2020 |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
ataxia neuromuscular |
Ataxia Cerebellar Ataxia Friedreich Ataxia Dyskinesias 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 |