Biomarkers in Friedreich's Ataxia

Friedreich's Ataxia Clinical Trial

Official title:

Biomarkers in Friedreich's Ataxia

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02497534
• Other study ID #: IRB201500369-N
• Secondary ID: UL1TR000064
• Status: Recruiting
• Start date: September 2015
• Est. completion date: June 3, 2030

Study information

• Verified date: August 2023
• Source: University of Florida
• Contact: Mackenzi Coker, M.S.CCC-SLP
• Phone: 352-294-8754
• Email: mcoker[@]peds.ufl.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 203
• Est. completion date: June 3, 2030
• Est. primary completion date: June 3, 2030
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 8 Years to 70 Years

Eligibility

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

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

Related Conditions & MeSH terms

• Ataxia
• Cerebellar Ataxia
• Friedreich Ataxia
• Friedreich's Ataxia

Locations

Country	Name	City	State
United States	University of Florida	Gainesville	Florida

Sponsors (4)

Lead Sponsor	Collaborator
University of Florida	Children's Miracle Network, National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH)

Country where clinical trial is conducted

United States, 

Outcome

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