Cardiac Output and Fatigue in Friedreich's Ataxia

NCT07444333 | Recruiting DMC

• 2 other identifiers: AAAV7687US-SKY-12378
• Study Type: interventional
• Target: 30
• Locations: 1 country
• Sites: 1

Brief Summary

This is a clinical trial examining to impact of aerobic training plus omaveloxolone in FRDA. Thirty individuals with FRDA will be recruited; 20 individuals will be on omaveloxolone treatment whereas the other ten individuals will not. Individuals will undergo baseline assessment including cardiopulmonary exercise testing (CPET), mFARS, gait speed, Timed Up and Go (TUG), Fatigue Severity Scale (FSS), Fatigue Impact Scale (FIS), and 6-minute Walk Test (6MWT). Individuals will then perform 3-months of home aerobic training. Repeat assessments will be conducted at 3- and 6-months.

Conditions

Friedreich's Ataxia

Keywords

Friedreich's ataxia; Aerobic exercise; Omaveloxolone; Fatigue; Cardiac Output

Outcome Measures

Primary Outcomes (3)

• Adverse events (Primary outcome for Aim 1)

  Adverse events are defined as exercise-related discomforts (muscle and joint pain), minor injuries (strains, sprains), and non-injurious falls. Serious adverse events are defined as hospitalization, surgery, death, or permanent disability. We will compare adverse and serious adverse events for both groups.

  0, 3, 6 months

• Maximal Oxygen Consumption (primary outcome measure for Aim 2)

  Maximal oxygen consumption (VO2max) will be determined by a breath-by-breath measurement of VO2 with a Vmax Encore Metabolic System, while participants perform a progressive ramped exercise test using an electronic-braked lower body cycle ergometer (CareFusion Corp, San Diego, CA). The minimal clinically important difference (MCID) has been determined to be between 1.0-2.0 mL/kg/min.

  0, 3-, 6-months

• Fatigue Severity scale (primary outcome measure for Aim 3)

  A commonly used measure to assess fatigue in a variety of populations. A score change of 3.5 to 4.5 points is considered clinically meaningful.

  0, 3-, and 6-months

Secondary Outcomes (7)

• 6-Minute Walk Test

  0, 3-, and 6-months

• Fatigue Impact Scale

  0, 3-, 6-months

• Cardiac Output

  0, 3-, and 6-months

• Timed Up and Go

  0, 3-, and 6-months

• Gait Speed

  0, 3-, 6-months

Study Arms (2)

Home Aerobic Training on Omaveloxolone

EXPERIMENTAL

Participants who are currently taking Skyclarys (omaveloxolone) will be given a recumbent exercise bike (Marcy ME-709 Adjustable Recumbent Exercise Bike, Pomona, CA) for home use. They will be instructed to exercise five times a week. The regimen will include 5-minute warm up, 30 minutes of exercise at target heart rate, and 5 minutes of cool down.

Behavioral: Aerobic Exercise

Home Aerobic Training off Omaveloxolone

ACTIVE COMPARATOR

Participants who are not taking Skyclarys (omaveloxolone) will be given a recumbent exercise bike (Marcy ME-709 Adjustable Recumbent Exercise Bike, Pomona, CA) for home use. They will be instructed to exercise five times a week. The regimen will include 5-minute warm up, 30 minutes of exercise at target heart rate, and 5 minutes of cool down.

Behavioral: Aerobic Exercise

Interventions

Aerobic Exercise BEHAVIORAL

Both groups will receive aerobic training. The difference will be whether individuals are on or off omaveloxolone.

Home Aerobic Training off Omaveloxolone; Home Aerobic Training on Omaveloxolone

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Genetically confirmed FRDA
• Ability to safely ride a stationary bicycle (mFARS sitting posture sub-score \<2)

You may not qualify if:

• Beck depression score \>19, a score that precludes ability to exercise.
• Montreal Cognitive Assessment (MoCA) score \<23/30
• Disorders that interfere with ability to perform endurance exercise (e.g., stroke, respiratory problems, traumatic brain injury, or neuromuscular disease).
• Regular participation in vigorous endurance exercise (defined as \>2 days/week for at least the past 4 months at max HR\>65%).
• Evidence of serious arrhythmias or ischemic heart disease.

Sponsors & Collaborators

• Scott Barbuto: lead
• Biogen: collaborator

Study Sites (1)

Columbia University Irving Medical Center

New York, New York, 10032, United States

RECRUITING

MeSH Terms

Conditions

Friedreich Ataxia; Fatigue

Interventions

Exercise

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; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Motor Activity; Movement; Musculoskeletal Physiological Phenomena; Musculoskeletal and Neural Physiological Phenomena

Central Study Contacts

Scott Barbuto, MD PhD

CONTACT

12123054818; sb3779@cumc.columbia.edu

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: SINGLE
• Who Masked: OUTCOMES ASSESSOR
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Assistant Professor at Columbia University Medical Center

Model Details: This is a clinical trial examining to impact of aerobic training plus omaveloxolone in FRDA. Thirty individuals with FRDA will be recruited; 20 individuals will be on omaveloxolone treatment whereas the other ten individuals will not. Individuals will undergo baseline assessment including cardiopulmonary exercise testing (CPET), mFARS, gait speed, Timed Up and Go (TUG), Fatigue Severity Scale (FSS), Fatigue Impact Scale (FIS), and 6-minute Walk Test (6MWT). Individuals will then perform 3-months of home aerobic training. Repeat assessments will be conducted at 3- and 6-months.

Study Record Dates

• First Submitted: November 17, 2025
• First Posted: March 2, 2026
• Study Start: July 15, 2026
• Primary Completion (Estimated): February 1, 2028
• Study Completion (Estimated): April 1, 2028
• Last Updated: September 22, 2026

Record last verified: 2026-09

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP
• Time Frame: It will be available after study completion around 12/14/2027
• Access Criteria: They will have access to the study protocol and de-identified data. It will be deposited in an NIH database.

Locations

US (1)