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.
Study Type
INTERVENTIONAL
Purpose
DIAGNOSTIC
Masking
NONE
Enrollment
40
Hôpital Pitié-Salpêtrière, AP-HP
Paris, France
Exercise-stress test
Time frame: 2 hours
Cardiac magnetic resonance imaging (CMR)
Time frame: 2 hours
Echocardiogram
Time frame: 2 hours
Level of cardiac biomarkers in serum
Time frame: 30 minutes
Fatigue Severity Scale
Time frame: 30 minutes
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