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Enrolling By Invitation
NCT07635030
GABA and GSH in FRDA
Conditions: Friedreich's Ataxia, FRDA
Sex: All
Ages: 8 Years – 16 Years
Healthy volunteers: No
Enrollment: 60
Sponsor: Children's Hospital of Philadelphia
Location: The Children's Hospital of Philadelphia Philadelphia Pennsylvania
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.
Eligibility Criteria
Inclusion Criteria:
* Age ≥ 8 years; \ 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
Source: ClinicalTrials.gov (NCT07635030). StuddyBuddy aggregates publicly available trial information.