Gainesville, Florida 32610


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.

Study summary:

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.


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



Primary Contact:

Principal Investigator
Manuela Corti, PT, PhD
University of Florida

Samantha Norman, MPH
Phone: 352-273-8218

Backup Contact:


Location Contact:

Gainesville, Florida 32610
United States

Blake Meyer
Phone: 352-294-8754

Site Status: Recruiting

Data Source:

Date Processed: January 21, 2020

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