GABA and GSH in FRDA

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.

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