This multicenter natural history study aims to expand the network of clinical research centers in FA, and to provide a framework for facilitating therapeutic interventions. In addition, this study will lead to the development of valid yet sensitive clinical measures crucial to outcome assessment of patients with Friedreich's Ataxia. This study will support genetic modifier studies, biomarker studies, and frataxin protein level assessments by building a sample repository.

This natural history study is no longer recruiting under this protocol NCT03090789 but remains actively recruiting under the harmonized study (UNIFAI) NCT06016946.

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 2000 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)

Participants with either a clinical diagnosis or genetic test confirmation of Friedreich ataxia. Study also accepts carriers of Friedreich ataxia along with healthy volunteers.