GABA and GSH in FRDA
Enrolling by invitation
Conditions studied: Friedreich's Ataxia, FRDA
In brief
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.
Key facts
- Study ID
- NCT07635030
- Run by
- Children's Hospital of Philadelphia
- People needed
- 60
- Starts
- 2024-05-08
- Expected to finish
- 2030-06-01
- Last updated by the study team
- 2026-06-09
Who can join
Age: 8 and older, up to 16. Sex: any. Healthy volunteers: not accepted.
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
Where it is running
- The Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States
Full record on ClinicalTrials.gov
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