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

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

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

Brief 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.

Detailed 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.
Sponsor: Weill Medical College of Cornell University

Current Primary Outcome:

  • Level of troponin, BNP, and CPK in blood [ Time Frame: 30 minutes ]
    Average the levels of troponin for each subject
  • echocardiogram [ Time Frame: 2 hour ]
    Evaluate the results of subject's Echo cardiograms
  • exercise-stress test [ Time Frame: 2 hour ]
    Evaluate off the results of the exercise-stress test


Original Primary Outcome:

  • Level of troponin, brain natriuretic peptide (BNP), and creatinine phosphokinase (CPK) in blood [ Time Frame: 1 hour ]
  • Blood flow through heart via echocardiogram [ Time Frame: 3 hours ]
  • Anaerobic threshold via exercise-stress test [ Time Frame: 3 hours ]
  • Blood flow through heart via cardiac magnetic resonance imaging [ Time Frame: 3 hours ]


Current Secondary Outcome:

Original Secondary Outcome:

Information By: Weill Medical College of Cornell University

Dates:
Date Received: November 12, 2014
Date Started: December 2014
Date Completion: December 2017
Last Updated: May 23, 2017
Last Verified: May 2017