GABA and GSH in FRDA
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: MRI/ MRS (Magnetic Resonance Imaging /Magnetic Resonance Spectroscopy).
- Who it may be relevant to
- Registry conditions: Friedreich's Ataxia, FRDA. Basic parameters: 8 years — 16 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Magnetic Resonance Spectroscopy (MRS) Estimates of Glutathione (GSH) and GABA as Biomarkers of Pathophysiology in FRDA
Overview
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.
Interventions
- Other MRI/ MRS (Magnetic Resonance Imaging /Magnetic Resonance Spectroscopy)
Subjects will undergo an MRI scan wherein the investigator will use a published, but recently developed, MRS protocol (HERMES) for simultaneous assessment of GABA and glutathione (GSH) in a single scan using a 3T MR scanner
Primary outcome measures
- GABA Assessment [Time frame: 3 years]
- Changes in NAA [Time frame: 3 years]
- GSH Assessment [Time frame: 3 years]
- Changes in MRS metabolite levels (Changes in ml) [Time frame: 3 years]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-control
Study locations
United States · 1 center
- The Children's Hospital of Philadelphia — Philadelphia
Identifiers
NCT: NCT07635030 · IRB 23-021822