NCT07635030Enrolling By InvitationNot Applicable
Magnetic Resonance Spectroscopy (MRS) Estimates of Glutathione (GSH) and GABA as Biomarkers of Pathophysiology in FRDA
Children's Hospital of Philadelphia1 site in 1 country60 target enrollmentStarted: May 8, 2024Last updated:
Trial Snapshot
- Phase
- Not Applicable
- Status
- Enrolling By Invitation
- Enrollment
- 60
- Locations
- 1
Study Overview
Brief 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.
Study Design
- Study Type
- Observational
- Observational Model
- Case Control
- Time Perspective
- Prospective
Eligibility Criteria
- Ages
- 8 Years to 16 Years (Child)
- Sex
- All
- Accepts Healthy Volunteers
- No
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
Investigators
Study Sites (1)
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