Friedreich's AtaxiaNCT07635030
GABA and GSH in FRDA
An observational study of Friedreich's Ataxia and FRDA, run by Children's Hospital of Philadelphia at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 8 to 16 years
- Conditions the study is for
- Friedreich's Ataxia, FRDA
- What is being tested?
- MRI/ MRS (Magnetic Resonance Imaging /Magnetic Resonance Spectroscopy)
- How many people
- 60 participants
- Where
- 1 siteUnited States
- Study dates
- 8 May 2024to Jun 2030
- How long will I take part?
- 3 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 8 to 16 years
- All sexes
- No healthy volunteers
- Child
Study population: FRDA patients ranging from ages 8 to 16 years old who are naive to Omaveloxolone.
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
About this study
Official title: Magnetic Resonance Spectroscopy (MRS) Estimates of Glutathione (GSH) and GABA as Biomarkers of Pathophysiology in FRDA
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:
- 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.
- Conditions
- Friedreich's Ataxia, FRDA
- Being tested
- MRI/ MRS (Magnetic Resonance Imaging /Magnetic Resonance Spectroscopy)
- Keywords
- FA
- Medical subject headings
- Friedreich Ataxia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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
| Study group | Role | What they receive |
|---|---|---|
| Control | Neurotypical (NT) children aged 8 <16 years old Receives: Other: MRI/ MRS (Magnetic Resonance Imaging /Magnetic Resonance Spectroscopy) | |
| Children with Friedreich's Ataxia (FRDA) | Children with Friedreich's Ataxia (FRDA) aged 8 <16 years old Receives: Other: MRI/ MRS (Magnetic Resonance Imaging /Magnetic Resonance Spectroscopy) |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 3 years
Changes in NAA
Changes in MRS metabolite levels, including N-acetyl-aspartate (NAA)will be assessed in FRDA participants.
Measured: 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.
Measured: 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.
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Jun 2026
- Study start8 May 2024
- Primary completionJun 2028 (estimated)
- Study completionJun 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Friedreich's AtaxiaStudies of the same condition, open and under way.
- More trials run by Children's Hospital of PhiladelphiaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 60 participants (estimated)
- Target duration
- 3 Years
Sponsor and investigators
- Lead sponsor
- Children's Hospital of Philadelphia
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07635030
- Sponsor's protocol ID
- IRB 23-021822
- Status last verified
- Jun 2026
- First submitted
- 1 Jun 2026
- Last updated
- 9 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 9 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Magnetic Resonance Spectroscopy (MRS) Estimates of Glutathione (GSH) and GABA as Biomarkers of Pathophysiology in FRDA
- ClinicalTrials.gov ID
- NCT07635030
- Acronym / sponsor ID
- IRB 23-021822
- Conditions
- Friedreich's Ataxia, FRDA
- Keywords
- FA
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 60 participants (estimated)
- Lead sponsor
- Children's Hospital of PhiladelphiaUniversity, hospital or other
- Study start
- 8 May 2024 (actual)
- Primary completion
- Jun 2028 (estimated)
- Study completion
- Jun 2030 (estimated)
- First posted
- 9 Jun 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- 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
- Observational model
- Case-control
- Time perspective
- Prospective
- Target follow-up
- 3 Years
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Control | – | Other: MRI/ MRS (Magnetic Resonance Imaging /Magnetic Resonance Spectroscopy)Neurotypical (NT) children aged 8 <16 years old |
| Children with Friedreich's Ataxia (FRDA) | – | Other: MRI/ MRS (Magnetic Resonance Imaging /Magnetic Resonance Spectroscopy)Children with Friedreich's Ataxia (FRDA) aged 8 <16 years old |
Who may qualify
- Ages
- 8 to 16 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- FRDA patients ranging from ages 8 to 16 years old who are naive to Omaveloxolone.
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (8 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| 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 | Other | Children with Friedreich's Ataxia (FRDA), Control |
Primary outcome
GABA Assessment
Time frame: 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
Time frame: 3 years
Changes in MRS metabolite levels, including N-acetyl-aspartate (NAA)will be assessed in FRDA participants.
GSH Assessment
Time frame: 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)
Time frame: 3 years
Changes in MRS metabolite levels, including myo-inositol (mI) will be assessed in FRDA patients.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Jun 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Friedreich's Ataxia and FRDA, run by Children's Hospital of Philadelphia at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 9 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
GABA Assessment (time frame: 3 years). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Jun 2026.