Recruiting

Observational Study

Sponsor:

University of Florida

Code:

NCT02497534

Conditions

Friedreich's Ataxia

Eligibility Criteria

Sex: All

Age: 6 - 70

Healthy Volunteers: Accepted

Study Details

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.

Conditions

Friedreich's Ataxia

Study ID

NCT02497534

Start date

Sep 28, 2015

Status verified date

Oct, 2026

Completion date

Jun 3, 2030

Anticipated

Primary completion date

Jun 3, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 6 - 70

Healthy Volunteers: Accepted

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

Study Design

Enrollment

203 participants

Anticipated

Interventions and Outcome Measures

Arms

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.

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

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.

Primary outcome measure

  • Cardiac MRI [ Time Frame: Baseline and Follow-Up Visits ]
  • Echocardiogram [ Time Frame: Baseline and Follow-Up Visits ]
  • Friedreich's Ataxia Rating Scale (FARS) [ Time Frame: Baseline and Follow-Up Visits ]
  • Metabolic exercise testing [ Time Frame: Baseline and Follow-Up Visits ]
  • Scale for the Assessment and Rating of Ataxia (SARA) [ Time Frame: Baseline and Follow-Up Visits ]
  • Muscle Biopsy [ Time Frame: Baseline ]
  • Skin Biopsy [ Time Frame: Baseline ]
  • 9-Hole-Peg Test [ Time Frame: Baseline and Follow-Up Visits ]
  • Pulmonary Function Testing [ Time Frame: Baseline and Follow-Up Visits ]

Central Contacts and Locations

Central contacts

Mackenzi Coker, M.S.CCC-SLP

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

Locations

University of Florida

Recruiting

Gainesville, Florida, United States, 32610

Contacts

Mackenzi Coker, MS, CCC-SLP

352-294-8754mcoker@ufl.edu

Principal Investigator:

Manuela Corti, PT, PhD

More Information

Sponsor

University of Florida

Last update posted

Oct 6, 2026

Last verified

Oct, 2026

Keywords

  • ataxia
  • neuromuscular

Trial information was received from ClinicalTrials.gov and was last updated on 2026-10-23. This information was provided to ClinicalTrials.gov by University of Florida on 2026-10-06. Recruitment status is synced daily from ClinicalTrials.gov and may not reflect the sponsor's current status. Confirm during your call.