New York, New York 10021


Friedreich's ataxia (FRDA) is an autosomal recessive disease characterized by loss of coordination and cardiomyopathy. It is the most common form of inherited ataxia with an incidence in 1/50,000 in the Caucasian population. FRDA is associated with progressive damage to the nervous system, resulting in symptoms ranging from gait disturbance to speech problems, as well as diabetes and heart disease. The heart disease manifests as cardiomyopathy, and is responsible for approximately 60% of deaths from FRDA. This study is designed to characterize the cardiac manifestations of the disease using exercise, MRI, ECHO and serum parameters, in the context of the neurological disease.

Study summary:

The focus of this study is to assess cardiac dysfunction in individuals with FRDA using 4 modalities: hand crank exercise, cardiac magnetic resonance (CMR) imaging, echocardiography (ECHO), and serum measurements of cardiac status, including high sensitivity troponin, a measure of cardiac myocyte damage; N-terminal prohormone of brain natriuretic peptide (NT-proBNP), a measure of heart failure; and creatine phosphokinase (CPK), a general measure of muscle damage. While there have been individual studies of some of these modalities, there are no studies that correlate these parameters and it is not known which parameters are more sensitive to cardiac dysfunction. This preliminary study will help define the parameters that will be most useful in assessing the cardiac involvement in FRDA.


Friedreich's Ataxia Inclusion Criteria: - Males and females, age 18 to 30 - Willing and able to provide informed consent - Definitive diagnosis of FRDA, based on clinical phenotype and genotype - Ability to complete study parameters Exclusion Criteria: - Signs and symptoms of cardiac failure - Moderate to severe atrial or ventricular arrythmias - History of angina pectoris - Inability to undergo MRI - History of uncontrolled diabetes - History of abnormal kidney function - Enrollment in a cardiac clinical trial - Unable to sit with back support - Pregnant or nursing females Normal controls Inclusion Criteria: - Ability to complete study parameters Exclusion Criteria: - Not deemed in good overall health - Pregnant or nursing females



Primary Contact:

Principal Investigator
Ronald Crystal, MD
Weill Medical College of Cornell University

Grace Mammen, BA, CCRP
Phone: 646-962-2676

Backup Contact:

Michelle Yuan, BA
Phone: 646-962-2672

Location Contact:

New York, New York 10021
United States

Michelle Yuan, BA
Phone: 646-962-2672

Site Status: Recruiting

Data Source:

Date Processed: June 25, 2018

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