Brain scans measuring GABA and glutathione in children and teens with Friedreich's ataxia
Uses brain scans to measure GABA and glutathione in people with Friedreich's ataxia.
Plain-language title generated from the registry record
Registry title: GABA and GSH in FRDA
Key facts
- Where
- Philadelphia, United StatesSee the site
Could this be for you?
Answer for yourself. This is not a decision: only the study team can say whether you can take part.
- Are you between 8 and 16 years old?
Source: NCT07635030, who can take part
Where in United States
- The Children's Hospital Of PhiladelphiaPhiladelphia, United StatesNo longer taking part
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Children's Hospital of Philadelphia
- Trial code
- NCT07635030
- Record updated
- 9 June 2026
- Original description
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:Read full original descriptionShow less
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: 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: MR contraindications (e.g., pacemaker or other metallic surgical implants); 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; Age < 8 years > 16 years; 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.