Clinical Trial: Biomarkers in Friedreich's Ataxia

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

Official Title: Biomarkers in Freidreich's Ataxia

Brief Summary: The purpose of this project is to characterize measures of cardiac performance and neuromuscular physiology in FA patients using novel techniques, including echocardiography and magnetic resonance imaging (MRI), metabolic exercise testing, and neurophysiological outcomes.

Detailed Summary: Friedreich's ataxia (FA) is an autosomal recessive disease caused by a mutation in the frataxin gene (FXN). Although rare, FA is the most common form of hereditary ataxia, affecting 1 in every 50,000 people in the United States. Currently, palliative therapies are the only treatment for FA patients. However, current gene therapy efforts in other neuromuscular diseases have positioned the investigator's research program to extend these discoveries and techniques to FA. As new therapies become available for clinical application, it is crucial to identify non-invasive outcomes measures of cardiac and neuromuscular performance with adequate sensitivity to detect the impact of treatments.
Sponsor: University of Florida

Current Primary Outcome:

  • Cardiac MRI [ Time Frame: Baseline ]
    Cardiac MRI will be used to characterize cardiac morphology and function.
  • Echocardiogram [ Time Frame: Baseline ]
    Echocardiogram will be used to characterize cardiac morphology and function.
  • Friedreich's Ataxia Rating Scale (FARS) [ Time Frame: Baseline ]
    FARS scores describe specific neurological impairments in FA.
  • Goal-directed motor control testing [ Time Frame: Baseline ]
    Goal-directed motor control testing will evaluate position and time error of tasks performed by the upper and lower extremities.
  • Metabolic exercise testing [ Time Frame: Baseline ]
    Metabolic exercise testing will be performed on a recumbent bike and will measure the maximal amount of exercise the subject is able to perform.
  • Isometric motor control testing [ Time Frame: Baseline ]
    Isometric motor control testing will evaluate force and time error of tasks performed by the upper and lower extremities.


Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: University of Florida

Dates:
Date Received: July 7, 2015
Date Started: September 2015
Date Completion: August 2017
Last Updated: April 10, 2017
Last Verified: October 2016