Biomarkers in Friedreich's Ataxia

University of Florida203 enrolled

Overview

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.

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.

Study Type

OBSERVATIONAL

Enrollment

203

Conditions

Friedreich's Ataxia

Eligibility

Sex: ALLMin age: 6 YearsMax age: 70 YearsHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria: * 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 Exclusion Criteria: * 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

Locations (1)

University of Florida

Gainesville, Florida, United States

RECRUITING

Outcomes

Primary Outcomes

Cardiac MRI

Cardiac MRI will be used to characterize cardiac morphology and function.

Time frame: Baseline and Follow-Up Visits

Echocardiogram

Echocardiogram will be used to characterize cardiac morphology and function.

Time frame: Baseline and Follow-Up Visits

Friedreich's Ataxia Rating Scale (FARS)

FARS scores describe specific neurological impairments in FA.

Time frame: Baseline and Follow-Up Visits

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 Visits

Scale for the Assessment and Rating of Ataxia (SARA)

Clinical scale assessing impairment levels in cerebellar ataxia

Time frame: Baseline and Follow-Up Visits

Muscle Biopsy

The muscle sample will be used to evaluate Frataxin quantification

Time frame: Baseline

Skin Biopsy

Analyses to peripheral tissue used to find out how Friedreich's Ataxia develops.

Time frame: Baseline

9-Hole-Peg Test

Assesses upper extremity function and motor coordination.

Time frame: Baseline and Follow-Up Visits

Pulmonary Function Testing

Central Contacts

Mackenzi Coker, M.S.CCC-SLP

CONTACT

352-294-8754 mcoker@peds.ufl.edu

Data from ClinicalTrials.gov

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