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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Control | Neurotypical (NT) children aged 8 <16 years old |
| |
| Children with Friedreich's Ataxia (FRDA) | Children with Friedreich's Ataxia (FRDA) aged 8 <16 years old |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| MRI/ MRS (Magnetic Resonance Imaging /Magnetic Resonance Spectroscopy) | Other | 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 |
| Measure | Description | Time Frame |
|---|---|---|
| GABA Assessment | 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. | 3 years |
| Changes in NAA | Changes in MRS metabolite levels, including N-acetyl-aspartate (NAA)will be assessed in FRDA participants. | 3 years |
| GSH Assessment | 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. | 3 years |
| Changes in MRS metabolite levels (Changes in ml) | Changes in MRS metabolite levels, including myo-inositol (mI) will be assessed in FRDA patients. | 3 years |
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Inclusion Criteria:
Exclusion Criteria:
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FRDA patients ranging from ages 8 to 16 years old who are naive to Omaveloxolone.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| The Children's Hospital of Philadelphia | Philadelphia | Pennsylvania | 19104 | United States |
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| Prot_SAP | Yes | Yes | No | Study Protocol and Statistical Analysis Plan | Oct 1, 2025 | Apr 23, 2026 | Prot_SAP_000.pdf |
| ICF | No | No | Yes | Informed Consent Form | Mar 11, 2026 | Jun 4, 2026 | ICF_001.pdf |
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| ID | Term |
|---|---|
| D005621 | Friedreich Ataxia |
| ID | Term |
|---|---|
| D013132 | Spinocerebellar Degenerations |
| D002526 | Cerebellar Diseases |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
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| ID | Term |
|---|---|
| D009682 | Magnetic Resonance Spectroscopy |
| ID | Term |
|---|---|
| D013057 | Spectrum Analysis |
| D002623 | Chemistry Techniques, Analytical |
| D008919 | Investigative Techniques |
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|
| D009422 | Nervous System Diseases |
| D013118 | Spinal Cord Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D028361 | Mitochondrial Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |