Biomarkers in Friedreich's Ataxia

Recruiting

• Conditions: Friedreich's Ataxia

• Registration Number: NCT02497534
• Lead Sponsor: University of Florida

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 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.

Study Timeline

• Study First Submitted: 2015-07-07
• Study First Submitted QC: 2015-07-09
• Study First Posted: 2015-07-14
• Study Start: 2015-09
• Status Verified: 2023-08
• Last Update Submitted: 2023-08-29
• Last Update Posted: 2023-09-01
• Primary Completion: 2030-06-03
• Study Completion: 2030-06-03

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 203

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 8 and 70 (inclusive)
• Are able to tolerate metabolic exercise testing
• Are stable on cardiac medication regimen for 3 months prior to screening

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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

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Cardiac MRI	Baseline and Follow-Up Visits	Cardiac MRI will be used to characterize cardiac morphology and function.
Echocardiogram	Baseline and Follow-Up Visits	Echocardiogram will be used to characterize cardiac morphology and function.
Friedreich's Ataxia Rating Scale (FARS)	Baseline and Follow-Up Visits	FARS scores describe specific neurological impairments in FA.
Skin Biopsy	Baseline	Analyses to peripheral tissue used to find out how Friedreich's Ataxia develops.
Pulmonary Function Testing	Baseline and Follow-Up Visits	Breathing tests to assess lung strength and function.
Metabolic exercise testing	Baseline and Follow-Up Visits	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.
Scale for the Assessment and Rating of Ataxia (SARA)	Baseline and Follow-Up Visits	Clinical scale assessing impairment levels in cerebellar ataxia
Muscle Biopsy	Baseline	The muscle sample will be used to evaluate Frataxin quantification
9-Hole-Peg Test	Baseline and Follow-Up Visits	Assesses upper extremity function and motor coordination.

Trial Locations

Locations (1)

University of Florida; 🇺🇸 Gainesville, Florida, United States