Biomarkers in Friedreich's Ataxia
ConditionFriedreich's Ataxia
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age6-70
SponsorUniversity of Florida
About this trial
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
This trial accepts healthy volunteersQualifiers
Genetic diagnosis of Friedreich's ataxia by DNA sequencing, mutational analysis or protein assay OR be a healthy subject with no evidence of a neuromuscular disorder
Between the ages of 6 and 70 (inclusive)
Are able to tolerate metabolic exercise testing
Are stable on cardiac medication regimen for 3 months prior to screening
Disqualifiers
Presence of unstable heart disease
Receipt of cardiac transplant
Any concurrent medical condition which, in the opinion of the investigators, would make the subject unsuitable for the study
Trial population
Subjects with Friedreich's ataxia, healthy control subjects, and carriers of Friedreich's ataxia
Trial design
Design model
Case-control
Time perspective
Cross-sectional
Treatments tested in this trial
Not listed
Trial groups
203 Participants
are grouped into 3 trial groupsGroup A: Affected with Friedreich's ataxia
Group B: Healthy controls
Group C: Carriers of Friedreich's ataxia
Trial outcomes
Primary outcomes
1
Cardiac MRI
Cardiac MRI will be used to characterize cardiac morphology and function.
Time frame
Baseline and Follow-Up Visits2
Echocardiogram
Echocardiogram will be used to characterize cardiac morphology and function.
Time frame
Baseline and Follow-Up Visits3
Friedreich's Ataxia Rating Scale (FARS)
FARS scores describe specific neurological impairments in FA.
Time frame
Baseline and Follow-Up Visits4
Metabolic exercise testing
Metabolic exercise testing will be performed on either a recumbent bike or hand ergometer and will measure the maximal amount of exercise the subject is able to perform.
Time frame
Baseline and Follow-Up VisitsSponsors and contacts
Click on the lead sponsor to view all of their trials.
University of Florida
Lead sponsor
Children's Miracle Network
Collaborator
National Institutes of Health (NIH)
Collaborator
National Center for Advancing Translational Sciences (NCATS)
Collaborator
Source ClinicalTrials.gov