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

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

Friedreich's ataxia (FA) is an autosomal recessive disease with an incidence of 1/50,000 in the Caucasian population. The main manifestations of FA are progressive sensory and cerebellar ataxia and cardiomyopathy (CM). It is the most common form of inherited ataxia. A severe CM affects ~60% of FA patients, mostly young adults, and leads to cardiac failure then death. Currently, no therapy can change the course of this severe cardiomyopathy.

This study is designed to characterize the cardiac manifestations of FA using cardiac magnetic resonance (CMR), echocardiography, serum cardiac biomarkers and evaluation of fatigue severity, in the context of the neurological disease.

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.