ClinicalTrials.gov record NCT02497534
Biomarkers in Friedreich's Ataxia
Biomarkers in Friedreich's Ataxia
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This observational study collects heart and neuromuscular measurements from people with Friedreich's ataxia, obligate carriers, and healthy controls. Participants will have cardiac MRI and echocardiogram, exercise testing, clinical rating scales (FARS and SARA), pulmonary and gait tests, and may optionally provide blood, skin, or muscle samples. The study aims to identify non-invasive measures that describe cardiac and neuromuscular performance in Friedreich's ataxia.
What it is studying. How cardiac imaging, exercise testing, clinical rating scales, and optional tissue samples characterize cardiac and neuromuscular performance in Friedreich's ataxia.
What the researchers hope to learn. To characterize cardiac morphology and function and to describe neuromuscular impairment in Friedreich's ataxia. To evaluate and validate non‑invasive outcome measures (imaging, exercise testing, clinical scales) and to analyze tissue samples, including frataxin quantification.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
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.
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
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
Study description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Detailed description from the registry
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.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
Affected participants and healthy controls will attend baseline and follow-up visits that include cardiac and exercise MRI, an echocardiogram, neurologic rating scales (Friedreich's Ataxia Rating Scale [FARS] and Scale for the Assessment and Rating of Ataxia [SARA]), exercise testing on a recumbent bike or hand ergometer, pulmonary function tests, gait analysis, and the 9‑Hole‑Peg Test. Investigators will also collect genetic mutation reports for affected participants. Optional procedures for some participants include a blood draw, a skin biopsy, and/or a muscle biopsy. Carriers are listed as having no planned assessments but may be asked about the optional laboratory procedures.
How the study is structured. An observational case‑control study with a cross‑sectional approach. It compares people affected by Friedreich's ataxia, obligate carriers, and healthy controls using imaging, exercise tests, clinical scales, pulmonary and gait assessments; some measures are recorded at baseline and at follow‑up visits. No investigational treatment is given.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Friedreich ataxia
Important dates
- Study start
- Sep 28, 2015
- Primary completion
- Jun 3, 2030 (estimated)
- Study completion
- Jun 3, 2030 (estimated)
- Target enrollment
- 203 participants (estimated)
- Last updated on registry
- Oct 6, 2026
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- University of Florida
- Collaborators
- Children's Miracle Network
- National Institutes of Health (NIH)
- National Center for Advancing Translational Sciences (NCATS)
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Mackenzi Coker, M.S.CCC-SLP 📞 352-294-8754 ✉ mcoker@peds.ufl.edu
Participating sites (1)
- University of FloridaRecruiting
Gainesville, Florida, 32610 · United States
- Mackenzi Coker, MS, CCC-SLP · 352-294-8754 · mcoker@ufl.edu
- Manuela Corti, PT, PhD
- Sub Subramony, MD
Terms used on this page · explanations by MedicalUpdates.ai
- echocardiography
- An ultrasound scan of the heart. A transesophageal echocardiogram is done through a probe passed into the food pipe for a closer view.
- magnetic resonance imaging
- A scan that uses magnets and radio waves, not X-rays, to make detailed pictures of the inside of the body. Some implants and metal objects mean a person cannot have one.
- prior to screening
- The checks done before enrolment to see whether a person qualifies, such as tests, scans or a review of medical history.
- Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- Exclusion Criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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