FRDA, Friedreich's Ataxia
Conditions
Keywords
FA
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.
Interventions
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
Sponsors
Children's Hospital of Philadelphia
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
8 Years to 16 Years
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| GABA Assessment | 3 years | The primary study outcome measure will be obtaining gamma-aminobutyric acid (GABA) assessment derived from magnetic resonance spectroscopy (MRS) recording, to be used as a potential biomarker in patients with FRDA prior to and after taking Omaveloxolone. |
| Changes in NAA | 3 years | Changes in MRS metabolite levels, including N-acetyl-aspartate (NAA)will be assessed in FRDA participants. |
| GSH Assessment | 3 years | The primary study outcome measure will be obtaining glutathione (GSH) assessment derived from magnetic resonance spectroscopy (MRS) recording, to be used as a potential biomarker in patients with FRDA prior to and after taking Omaveloxolone. |
| Changes in MRS metabolite levels (Changes in ml) | 3 years | Changes in MRS metabolite levels, including myo-inositol (mI) will be assessed in FRDA patients. |
Countries
United States
Outcome results
None listed