Biomarkers in Friedreich's Ataxia

NCT02497534 | Recruiting

• 2 other identifiers: IRB201500369-NUL1TR000064
• Study Type: observational
• Target: 203
• Locations: 1 country
• Sites: 1

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

Keywords

ataxia; neuromuscular

Outcome Measures

Primary Outcomes (9)

• Cardiac MRI

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

  Baseline and Follow-Up Visits

• Echocardiogram

  Echocardiogram will be used to characterize cardiac morphology and function.

  Baseline and Follow-Up Visits

• Friedreich's Ataxia Rating Scale (FARS)

  FARS scores describe specific neurological impairments in FA.

  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.

  Baseline and Follow-Up Visits

• Scale for the Assessment and Rating of Ataxia (SARA)

  Clinical scale assessing impairment levels in cerebellar ataxia

  Baseline and Follow-Up Visits

• Muscle Biopsy

  The muscle sample will be used to evaluate Frataxin quantification

  Baseline

• Skin Biopsy

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

  Baseline

• 9-Hole-Peg Test

  Assesses upper extremity function and motor coordination.

  Baseline and Follow-Up Visits

• Pulmonary Function Testing

  Breathing tests to assess lung strength and function.

  Baseline and Follow-Up Visits

Study Arms (3)

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.

Eligibility Criteria

• Age: 6 Years - 70 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Subjects with Friedreich's ataxia, healthy control subjects, and carriers of Friedreich's ataxia

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University of Florida: lead
• Children's Miracle Network: collaborator
• National Institutes of Health (NIH): collaborator
• National Center for Advancing Translational Sciences (NCATS): collaborator

Study Sites (1)

University of Florida

Gainesville, Florida, 32610, United States

RECRUITING

MeSH Terms

Conditions

Friedreich Ataxia; Ataxia

Condition Hierarchy (Ancestors)

Spinocerebellar Degenerations; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mitochondrial Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Dyskinesias; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Manuela Corti, PT, PhD

  University of Florida

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Mackenzi Coker, M.S.CCC-SLP

CONTACT

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

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 7, 2015
• First Posted: July 14, 2015
• Study Start: September 1, 2015
• Primary Completion (Estimated): June 3, 2030
• Study Completion (Estimated): June 3, 2030
• Last Updated: September 23, 2025

Record last verified: 2025-09

Locations

US (1)