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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

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View on ClinicalTrials.gov

Source: ClinicalTrials.gov (NCT07635030). StuddyBuddy aggregates publicly available trial information.