Biomarkers in Friedreich's Ataxia

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