Characterizing cardiac and neuromuscular performance in Friedreich's Ataxia patients
Biomarkers in Friedreich's Ataxia
This study is trying to see how Friedreich's Ataxia affects heart and muscle function in patients compared to healthy people, using advanced tests to learn more about the condition.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 203 (estimated) |
| Ages | 6 Years to 70 Years |
| Sex | All |
| Sponsor | University of Florida Academic / other |
| Locations | 1 site (Gainesville, Florida) |
| Trial ID | NCT02497534 on ClinicalTrials.gov |
What this trial studies
This project aims to assess cardiac performance and neuromuscular physiology in patients with Friedreich's Ataxia (FA) using advanced techniques such as echocardiography, magnetic resonance imaging (MRI), metabolic exercise testing, and neurophysiological evaluations. FA is a rare genetic disorder that primarily affects movement and heart function, and current treatment options are limited to palliative care. By identifying non-invasive outcome measures, the study seeks to enhance the understanding of FA and prepare for future therapeutic interventions. The research will involve both FA patients and healthy subjects for comparative analysis.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 8 to 70 with a genetic diagnosis of Friedreich's Ataxia or healthy subjects without neuromuscular disorders.
Not a fit: Patients with unstable heart disease or those who have received a cardiac transplant may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved monitoring and treatment strategies for patients with Friedreich's Ataxia.
How similar studies have performed: While there have been advancements in gene therapy for other neuromuscular diseases, this specific approach in Friedreich's Ataxia is relatively novel and untested.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Gainesville, Florida
- University of Florida — Gainesville, Florida, United States (Recruiting)
Study contacts
- Principal investigator: Manuela Corti, PT, PhD — University of Florida
- Study coordinator: Mackenzi Coker, M.S.CCC-SLP
- Email: mcoker@peds.ufl.edu
- Phone: 352-294-8754
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.