Biomarkers in Friedreich's Ataxia

Last updated: September 10, 2024
Sponsor: University of Florida
Overall Status: Active - Recruiting

Phase

N/A

Condition

Friedreich's Ataxia

Spinocerebellar Disorders

Dyskinesias

Treatment

N/A

Clinical Study ID

NCT02497534
IRB201500369-N
UL1TR000064
  • Ages 8-70
  • All Genders
  • Accepts Healthy Volunteers

Study 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.

Eligibility Criteria

Inclusion

Inclusion Criteria:

  • Genetic diagnosis of Friedreich's ataxia by DNA sequencing, mutational analysis orprotein assay OR be a healthy subject with no evidence of a neuromuscular disorder

  • Between the ages of 8 and 70 (inclusive)

  • Are able to tolerate metabolic exercise testing

  • Are stable on cardiac medication regimen for 3 months prior to screening

Exclusion

Exclusion Criteria:

  • Presence of unstable heart disease

  • Receipt of cardiac transplant

  • Any concurrent medical condition which, in the opinion of the investigators, wouldmake the subject unsuitable for the study

Study Design

Total Participants: 203
Study Start date:
September 01, 2015
Estimated Completion Date:
June 03, 2030

Study Description

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.

Connect with a study center

  • University of Florida

    Gainesville, Florida 32610
    United States

    Active - Recruiting

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