GABA and GSH in FRDA

NCT07635030 | Enrolling By Invitation

• 1 other identifier: IRB 23-021822
• Study Type: observational
• Target: 60
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Friedreich's Ataxia; FRDA

Keywords

FA

Outcome Measures

Primary Outcomes (4)

• GABA Assessment

  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

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

  3 years

• GSH Assessment

  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)

  Changes in MRS metabolite levels, including myo-inositol (mI) will be assessed in FRDA patients.

  3 years

Study Arms (2)

Control

Neurotypical (NT) children aged 8 \<16 years old

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

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)

Interventions

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

Children with Friedreich's Ataxia (FRDA); Control

Eligibility Criteria

• Age: 8 Years - 16 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Children's Hospital of Philadelphia: lead

Study Sites (1)

The Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

MeSH Terms

Conditions

Friedreich Ataxia

Interventions

Magnetic Resonance Spectroscopy

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

Intervention Hierarchy (Ancestors)

Spectrum Analysis; Chemistry Techniques, Analytical; Investigative Techniques

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Target Duration: 3 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 1, 2026
• First Posted: June 9, 2026
• Study Start: May 8, 2024
• Primary Completion (Estimated): June 1, 2028
• Study Completion (Estimated): June 1, 2030
• Last Updated: June 9, 2026

Record last verified: 2026-06

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)