Friedreich's AtaxiaNCT02497534
Biomarkers in Friedreich's Ataxia
An observational study of Friedreich's Ataxia, run by University of Florida at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 6 to 70 yearsHealthy volunteers can take part
- Conditions the study is for
- Friedreich's Ataxia
- How many people
- 203 participants
- Where
- 1 siteUnited States
- Study dates
- 28 Sep 2015to 3 Jun 2030
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 to 70 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Subjects with Friedreich's ataxia, healthy control subjects, and carriers of Friedreich's ataxia
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
University of Florida
Gainesville, Florida, 32610
Mackenzi Coker, MS, CCC-SLP, 352-294-8754, mcoker@ufl.edu
Manuela Corti, PT, PhD
About this study
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.
Read the 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.
- Conditions
- Friedreich's Ataxia
- Keywords
- ataxia, neuromuscular
- Medical subject headings
- Friedreich Ataxia, Ataxia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Affected with Friedreich's ataxia | Friedreich's ataxia patients aged 6 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 6 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 optional blood draws and/or muscle/skin biopsies | |
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Cardiac MRI
Cardiac MRI will be used to characterize cardiac morphology and function.
Measured: Baseline and Follow-Up Visits
Echocardiogram
Echocardiogram will be used to characterize cardiac morphology and function.
Measured: Baseline and Follow-Up Visits
Friedreich's Ataxia Rating Scale (FARS)
FARS scores describe specific neurological impairments in FA.
Measured: Baseline and Follow-Up Visits
Metabolic exercise testing
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.
Measured: Baseline and Follow-Up Visits
Scale for the Assessment and Rating of Ataxia (SARA)
Clinical scale assessing impairment levels in cerebellar ataxia
Measured: Baseline and Follow-Up Visits
Muscle Biopsy
The muscle sample will be used to evaluate Frataxin quantification
Measured: Baseline
Skin Biopsy
Analyses to peripheral tissue used to find out how Friedreich's Ataxia develops.
Measured: Baseline
9-Hole-Peg Test
Assesses upper extremity function and motor coordination.
Measured: Baseline and Follow-Up Visits
Pulmonary Function Testing
Breathing tests to assess lung strength and function.
Measured: Baseline and Follow-Up Visits
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Jul 2015 (estimated)
- Study start28 Sep 2015
- Primary completion3 Jun 2030 (estimated)
- Study completion3 Jun 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Friedreich's AtaxiaStudies of the same condition, open and under way.
- More trials run by University of FloridaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 203 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Florida
- Sponsor type
- University, hospital or other
- Collaborators
- Children's Miracle Network, National Institutes of Health (NIH), National Center for Advancing Translational Sciences (NCATS)
- Responsible party
- Sponsor
- Investigators
- Manuela Corti, PT, PhD, Principal investigator, University of Florida
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02497534
- Sponsor's protocol ID
- IRB201500369-N
- Other IDs
- UL1TR000064
- Status last verified
- Oct 2026
- First submitted
- 7 Jul 2015
- Last updated
- 6 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No