Biomarkers in Friedreich's Ataxia

NCT ID: NCT02497534

Last Updated: 2025-09-23

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 203 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2015-09-30
• Study Completion Date: 2030-06-03

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.

Conditions

Friedreich's Ataxia

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: CROSS_SECTIONAL

Study Groups

Affected with Friedreich's ataxia

Friedreich's ataxia patients aged 6 to 70 (inclusive). Assessments will include collection of genetic mutation reports, cardiac and exercise MRI, echocardiogram, the Friedreich's Ataxia Rating Scale (FARS), exercise testing with a recombinant bike and/or hand ergometer, pulmonary function testing, and gait analysis. Optional labs include a blood draw, skin biopsy, and/or muscle biopsy.

No interventions assigned to this group

Healthy controls

Health controls aged 6 to 70 (inclusive). Assessments will include cardiac and exercise MRI, echocardiogram, the Friedreich's Ataxia Rating Scale (FARS), exercise testing, hand ergometer for exercise testing, pulmonary function testing, gait analysis, and optional blood draws and/or muscle/skin biopsies

No interventions assigned to this group

Carriers of Friedreich's ataxia

An obligate carrier aged 18 to 70 (inclusive) of the abnormal Friedreich's ataxia gene by being a parent of a child with Friedreich's ataxia. No assessments are to be conducted. Optional labs include a blood draw, skin biopsy, and/or muscle biopsy.

No interventions assigned to this group

Eligibility Criteria

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

• Minimum Eligible Age: 6 Years
• Maximum Eligible Age: 70 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Children's Miracle Network

OTHER

Sponsor Role: collaborator

National Institutes of Health (NIH)

NIH

Sponsor Role: collaborator

National Center for Advancing Translational Sciences (NCATS)

NIH

Sponsor Role: collaborator

University of Florida

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Manuela Corti, PT, PhD

Role: PRINCIPAL_INVESTIGATOR

University of Florida

Locations

University of Florida

Gainesville, Florida, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Mackenzi Coker, M.S.CCC-SLP

Role: CONTACT

mcoker@peds.ufl.edu

352-294-8754

Facility Contacts

Mackenzi Coker, MS, CCC-SLP

Role: primary

mcoker@ufl.edu

352-294-8754

Other Identifiers

UL1TR000064

Identifier Type: NIH

Identifier Source: secondary_id

View Link

IRB201500369-N

Identifier Type: -

Identifier Source: org_study_id