A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study)

Inclusion criteria

(Friedreich's Ataxia):

• Males and females;
• ≥ 18 years old;
• Willing and able to provide informed consent;
• Definitive diagnosis of FA, based on clinical phenotype and genotype;
• With a hypertrophic cardiomyopathy;
• Ability to complete study assessments.

Exclusion criteria

(Friedreich's Ataxia):

• Symptoms of cardiac failure;
• Moderate to severe atrial or ventricular arrhythmias;
• History of angina pectoris;
• Inability to undergo cardiac MRI;
• Clinical history or evidence of diabetes;
• Abnormal kidney function;
• Females who are pregnant or nursing;
• Receipt of an investigational drug within 30 days or 5 half-lives, or active enrollment in an investigational medication or device study;
• Inability to sit with back support;
• Inability to undergo exercise test;
• Inability to comply with all study requirements;
• Unaffiliated to any French health insurance or equivalent.

Inclusion criteria

(Healthy Volunteers):

• Healthy males and females;
• ≥ 18 years old;
• Willing and able to provide informed consent;
• Age and gender matched to the Friedreich's Ataxia group;
• Ability to complete study assessments.

Exclusion criteria

(Healthy Volunteers):

• Inability to undergo cardiac MRI;
• Clinical history or evidence of diabetes;
• Abnormal kidney function;
• Females who are pregnant or nursing;
• Receipt of an investigational drug within 30 days or 5 half-lives, or active enrollment in an investigational medication or device study;
• Inability to undergo exercise test;
• Inability to comply with all study requirements;
• Unaffiliated to any French health insurance or equivalent.