GABA and GSH 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.

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Key information

Conditions

Friedreich's Ataxia Brain Diseases Central Nervous System Diseases Cerebellar Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities FRDA Friedreich Ataxia Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Metabolic Diseases Mitochondrial Diseases Nervous System Diseases Neurodegenerative Diseases Nutritional and Metabolic Diseases Spinal Cord Diseases Spinocerebellar Degenerations

Age range

8 year–16 year

Sex eligibility

All sexes

Study type

Observational

Primary location

The Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

MRI/ MRS (Magnetic Resonance Imaging /Magnetic Resonance Spectroscopy)

Other

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

Primary outcomes

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.
Changes in NAA

Time frame: 3 years

Changes in MRS metabolite levels, including N-acetyl-aspartate (NAA)will be assessed in FRDA participants.
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.
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.

Sponsors and collaborators

Lead sponsor

Children's Hospital of Philadelphia

Other

Registry information

Official study title

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

Important dates

Study start: 2024
Primary completion: 2028
Study completion: 2030
First posted: Jun 9, 2026
Registry last updated: Jun 9, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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