NCT02316314

Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 100 (estimated)
• Sponsor: Weill Medical College of Cornell University · Academic / Other
• Sex: All
• Age: 12 Years – 50 Years
• Healthy volunteers: Accepted

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.

Detailed 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 not known which parameters are more sensitive to cardiac dysfunction. This preliminary study will help define the parameters most useful in assessing the cardiac involvement in FRDA. In addition, the study will investigate noninvasive tests and procedures that may serve as biomarkers for the neurologic disease. In other neurological diseases, non-invasive examination of the number and structure of nerve cells in the cornea has been assessed as an indication of disease progression.

Conditions

• Friedreich's Ataxia

Interventions

Type	Name	Description
PROCEDURE	Cardiac 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.
PROCEDURE	Exercise-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.
PROCEDURE	Echocardiogram (ECHO)	An echocardiogram is an ultrasound of the heart done at rest.
PROCEDURE	Cardiac-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).

Timeline

• Start date: 2015-01-15
• Primary completion: 2026-08-01
• Completion: 2026-08-01
• First posted: 2014-12-12
• Last updated: 2025-08-19

Locations

1 site across 1 country: United States