Biomarkers in Friedreich's Ataxia
Biomarkers in Friedreich's Ataxia
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.
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