FA Clinical Outcome Measures

Friedreich's ataxia (FA) is a rare autosomal recessive degenerative disorder characterized by
ataxia, dysarthria, sensory loss, diabetes and cardiomyopathy. The discovery of the abnormal
gene in FA and its product (frataxin) has provided insight into possible pathophysiological
mechanisms and novel approaches to treatments in this disease. While such methods for
assessing disease progression may be useful, evaluation in clinical trials will require
specific clinical outcome measures.

This is a multicenter natural history study which aims to expand the network of clinical
research centers specializing in Friedreich's Ataxia and to advance clinical care, research
and therapeutic approaches in FA through the development and validation of clinical outcome
measures. Study sites aim to collect quantitative serial clinical data on patients with FA
and expand the existing research network. In addition, the study will support various genetic
modifier studies, biomarker studies, and frataxin protein level assessments in patients with
FA, in carriers, and in controls.

This study will recruit up to 1500 patients with Friedreich ataxia worldwide, to be assessed
annually for up to 15 years. All individuals with a genetic or clinical diagnosis of FA can
participate.

Study participation involves yearly assessments of a core set of clinical measures and
quality of life assessment measures in addition to optional collection of a cheek swab and/or
blood sample.

Inclusion Criteria:

1. Males or females age 4 to 80 years.

2. Genetically confirmed diagnosis of FA (for carrier/control cheek swab and blood
samples this is not required).

3. Clinically confirmed diagnosis of FA, pending confirmatory genetic testing through a
commercial or research laboratory (for carrier/control cheek swab and blood samples
this is not required).

4. Parental/guardian permission (informed consent) and if appropriate, child assent.

Exclusion Criteria:

1) Signs or symptoms of severe cardiomyopathy (such as congestive heart failure)