Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)
Weill Medical College of Cornell University
Summary
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. In addition, this study will demonstrate that corneal confocal microscopy (CCM) may also provide a biomarker for FRDA.
Description
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 (NTproBNP), 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…
Eligibility
- Age range
- 12–50 years
- Sex
- All
- Healthy volunteers
- Yes
Friedreich's Ataxia - Inclusion Criteria: * Males and females, age 12 to 50 * Willing and able to provide informed consent (adolescents will need to provide assent and a parent to provide consent) * Definitive diagnosis of FRDA, based on clinical phenotype and genotype * Left ventricle ejection fraction measured by ECHO of \>35% (If results of an ECHO are not available for a potential subject, then an ECHO will first be performed and subjects with an LVEF \<35% will not be required to perform the CPET) Friedreich's Ataxia - Exclusion Criteria: * Signs and symptoms of cardiac failure * Moder…
Interventions
- ProcedureCardiac magnetic resonance imaging (CMR)
CMR is a non-invasive way to take a high-resolution image of the heart and vessels. CMR uses powerful magnets and radio waves to obtain the image. During the CMR, you will have a substance injected into your vein called "contrast" to get a better picture of the heart.
- ProcedureExercise-stress test
You will be asked to pedal on a bicycle with your arms to see how much work you can do and how far you can go.
- ProcedureEchocardiogram (ECHO)
An echocardiogram is an ultrasound of the heart done at rest.
- ProcedureCardiac-related blood studies
The blood test involves drawing blood from a vein in the arm by placing a needle in it. The total amount of blood to be drawn for a single visit will be up to 57 mL (12 teaspoons).
Location
- Weill Cornell MedicineNew York, New York