GABA and GSH in FRDA

June 4, 2026 updated by: Children's Hospital of Philadelphia

Magnetic Resonance Spectroscopy (MRS) Estimates of Glutathione (GSH) and GABA as Biomarkers of Pathophysiology in FRDA

The goal of this study is to obtain gamma-aminobutyric acid (GABA) and glutathione (GSH) assessment derived from magnetic resonance spectroscopy (MRS), to be used as a potential biomarker in patients with Friedreich Ataxia (FRDA) prior to (Aim 1), and after taking Omaveloxolone (Aim 2). Analysis will consist of:

A. Comparison of values in controls with those of FRDA patients (Aim 1) B. Longitudinal comparison of values in FRDA patients repeated after Omaveloxolone administration at 3 time points (minimum of 6 months) (Aim 2)

FRDA participants will be asked to complete an MRS scan at 3 timepoints in order to observe GABA and GSH activity.

Study Overview

Status

Enrolling by invitation

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

60

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • The Children's Hospital of Philadelphia

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

FRDA patients ranging from ages 8 to 16 years old who are naive to Omaveloxolone.

Description

Inclusion Criteria:

  • Age ≥ 8 years; <16 years
  • Written informed consent provided
  • Balletic Guanine-adenine-adenine (GAA) trinucleotide repeat length > 55 in intron 1 of Frataxin (FXN) and/or GAA repeat length > 55 in intron 1 of FXN in one allele and another type of mutation that is inferred to cause loss of function in the second FXN allele as documented in the medical record
  • Friedreich's Ataxia Rating Scale (FARS) Functional staging score of ≤ 5^ and total modified Friedreich's Ataxia Rating Scale (mFARS) score of ≤ 65 on enrolment

Exclusion Criteria:

  • Age < 8 years > 16 years
  • Acute or ongoing medical or other conditions that is deemed to interfere with the conduct and assessments of the study
  • Other psychiatric or neurologic conditions apart from FRDA that, in the opinion of the Site Investigator, would interfere with the conduct and assessments of the study
  • MR contraindications (e.g., pacemaker or other metallic surgical implants)
  • Presence of metallic dental braces
  • Currently pregnant participants
  • Confined to wheelchair or bed with total dependency for all activities of daily living. Total disability.
  • Unable to understand English instruction

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Control
Neurotypical (NT) children aged 8 <16 years old
Other: MRI/ MRS (Magnetic Resonance Imaging /Magnetic Resonance Spectroscopy)
Subjects will undergo an MRI scan wherein the investigator will use a published, but recently developed, MRS protocol (HERMES) for simultaneous assessment of GABA and glutathione (GSH) in a single scan using a 3T MR scanner
Children with Friedreich's Ataxia (FRDA)
Children with Friedreich's Ataxia (FRDA) aged 8 <16 years old
Other: MRI/ MRS (Magnetic Resonance Imaging /Magnetic Resonance Spectroscopy)
Subjects will undergo an MRI scan wherein the investigator will use a published, but recently developed, MRS protocol (HERMES) for simultaneous assessment of GABA and glutathione (GSH) in a single scan using a 3T MR scanner

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
GABA Assessment
Time Frame: 3 years
The primary study outcome measure will be obtaining gamma-aminobutyric acid (GABA) assessment derived from magnetic resonance spectroscopy (MRS) recording, to be used as a potential biomarker in patients with FRDA prior to and after taking Omaveloxolone.
3 years
Changes in NAA
Time Frame: 3 years
Changes in MRS metabolite levels, including N-acetyl-aspartate (NAA)will be assessed in FRDA participants.
3 years
GSH Assessment
Time Frame: 3 years
The primary study outcome measure will be obtaining glutathione (GSH) assessment derived from magnetic resonance spectroscopy (MRS) recording, to be used as a potential biomarker in patients with FRDA prior to and after taking Omaveloxolone.
3 years
Changes in MRS metabolite levels (Changes in ml)
Time Frame: 3 years
Changes in MRS metabolite levels, including myo-inositol (mI) will be assessed in FRDA patients.
3 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Children's Hospital of Philadelphia

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

May 8, 2024

Primary Completion (Estimated)

June 1, 2028

Study Completion (Estimated)

June 1, 2030

Study Registration Dates

First Submitted

June 1, 2026

First Submitted That Met QC Criteria

June 4, 2026

First Posted (Actual)

June 9, 2026

Study Record Updates

Last Update Posted (Actual)

June 9, 2026

Last Update Submitted That Met QC Criteria

June 4, 2026

Last Verified

June 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • IRB 23-021822

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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