Friedreich AtaxiaNCT07013292
Efficacy of Omaveloxolone Treatment for Dysphagia in French Patients With Friedreich's Ataxia
An observational study of Friedreich Ataxia, run by Centre Hospitalier Universitaire de Nice at 1 site in France.
Trial summary
Friedreich's ataxia (FA) is a rare, inherited neurodegenerative disease that typically begins in children and young people. It primarily affects the spinal cord, peripheral nerves and cerebellum of the brain. Read more about this study
- Who is it for?
- Ages 16 years and older
- Conditions the study is for
- Friedreich Ataxia
- What is being tested?
- SKYCLARYS (omaveloxolone)
- Type of treatment
- Pill or oral medicine
- How many people
- 40 participants
- Where
- 1 siteFrance
- Study dates
- 1 Jun 2025to 30 Jun 2026
- 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 16 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The study population will be selected from two public hospitals in France Lille and Nice where patients with genetically confirmed Friedreich's ataxia were treated with early access Omaveloxolone treatment.
Who may be able to join
- Aged ≥ 16 Years
- Confirmed diagnosis of Friedreich's ataxia, genetically verified.
- Omaveloxolone therapy between February 2024 and May 2025, having receive treatment for at least 6 months.
Who cannot join
- Participants who interrupted treatment permanently before 6 months.
- Participants who did not complete the SSQ (Sydney swallow Questionnaire) at baseline and after 6 months of treatment.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
CHU NICE
Nice, Alpes Maritimes, 06000
Andra
Abderhmane Slioui, 0492038953 ext. +33, slioui.a@chu-nice.fr
About this study
Official title: Retrospective Bicentric Study in a Cohort of French Friedreich's Ataxia Patients on the 6-month Efficacy of Omaveloxolone Treatment on Dysphagia.
Friedreich's ataxia (FA) is a rare, inherited neurodegenerative disease that typically begins in children and young people. It primarily affects the spinal cord, peripheral nerves and cerebellum of the brain. Clinical manifestations include progressive gait and limb ataxia, auditory and optic neuropathy, cardiomyopathy, scoliosis, dysarthria, and dysphagia. In advanced stages, individuals may become wheelchair-dependent, leading to a severe loss of autonomy and reduced life expectancy. To date, there are no effective treatments known to reverse or halt disease progression. Heart disease remains the leading cause of death in individuals with FA. In January 2024, Omaveloxolone was approved for early access in France to treat FA in patients aged 16 years and older. Dysphagia is a central manifestation in FA, and may lead to severe complications such as malnutrition, dehydration, and aspiration-related pneumonia, as well as reduced self-esteem and social isolation. Despite its clinical relevance, dysphagia remains underexplored in clinical trials, including in major Omaveloxolone studies where no specific tool for measuring dysphagia has been incorporated. This study aimed to comprehensively evaluate the effect of Omaveloxolone on dysphagia after six months of treatment, in a cohort of French patients with Friedreich's ataxia who benefited from early access to treatment between February 2024 and May 2025. The severity of dysphagia will be assessed using the Sydney Swallow Questionnaire (SSQ), completed by patients at baseline and after six months of Omaveloxolone treatment.
- Conditions
- Friedreich Ataxia
- Being tested
- SKYCLARYS (omaveloxolone)
- Medical subject headings
- Friedreich Ataxia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
SKYCLARYS (omaveloxolone)Drug
Skyclarys is indicated for the treatment of Friedreich's ataxia in adults and adolescents aged 16 and over. Opaque capsule with "RTA 408" printed in white ink on the light green body and "50" printed in white ink on the blue cap. Capsules (size 0) measure 21.7 ± 0.3 mm in length and the outer diameter of the cap is 7.64 ± 0.06 mm. Omaveloxolone should be initiated and monitored by physicians experienced in treating patients with patients with Friedreich's ataxia. The recommended dose is 150 mg omaveloxolone (3 x 50 mg capsules) once daily.
| Study group | Role | What they receive |
|---|---|---|
| Patients with Friedreich ataxia treated with Omaveloxolone | SKYCLARYS (omaveloxolone) Receives: Drug: SKYCLARYS (omaveloxolone) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Evaluate the progression of dysphagia after 6 months of treatment with Omaveloxolone.
The SARA (Scale for the Assessment and Rating of Ataxia) questionnaire has eight categories with accumulative score ranging from 0 (no ataxia) to 40 (most severe ataxia). Participants will be divided into three groups based on the SARA score. The analysis will compare the mean SSQ (Sydney Swallow Questionnaire) score within each group at the beginning of treatment and again after six months. Additionally, variations in SSQ scores across the three groups will be evaluated to identify any differences in the progression of dysphagia.
Measured: At the time of treatment initiation and after 6 months of Omaveloxolone treatment
Secondary outcomes (5)
Comparison between SSQ (Sydney Swallow Questionnaire) and SARA (Scale for the Assessment and Rating of Ataxia) scores
The SARA questionnaire has eight categories with accumulative score ranging from 0 (no ataxia) to 40 (most severe ataxia). Participants will be divided into three groups based on the SARA score. The analysis will compare the mean SSQ scores within each group at the beginning of treatment and again after six months. Additionally, variations in SSQ scores across the three groups will be evaluated to identify any differences in the progression of dysphagia.
Measured: At the time of treatment initiation and after 6 months of Omaveloxolone treatment
Correlation after 6 months of treatment between SARA (Scale for the Assessment and Rating of Ataxia) and SSQ (Sydney Swallow Questionnaire) scores.
After 6 months of treatment, the correlation between neurological damage measured by SARA and dysphagia measured by SSQ will be evaluated.
Measured: At the time of treatment initiation and after 6 months of Omaveloxolone treatment
Impact of functional status (ambulant vs. non-ambulant) on dysphagia
Participants will be divided into two groups: Ambulatory and Non-ambulatory and a comparison will be made between the SSQ (Sydney Swallow Questionnaire) scores at baseline and after six months within each group.
Measured: At the time of treatment initiation and after 6 months of Omaveloxolone treatment
Correlation between GAA expansion size and dysphagia (SSQ score) Sydney Swallow Questionnaire
Participants will be divided into 3 groups based on the size of the GAA expansion on the shorter allele and SSQ scores .
Measured: At the time of treatment initiation and after 6 months of Omaveloxolone treatment
Correlation between (GAA expansion) size GAA: a repeated sequence of three nucleotides: guanine (G), adenine (A), adenine (A) in DNA. and the evolution of neurological damage ( SARA score) Scale for the Assessment and Rating of Ataxia
The size of the GAA expansion is information that can be found in patients medical files. Participants will be divided into three groups based on the size of the GAA expansion and a comparison will be made between the ( SARA score) Scale
Measured: At the time of treatment initiation and after 6 months of Omaveloxolone treatment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Jun 2025
- Study start1 Jun 2025
- Primary completion30 Jun 2026 (estimated)
- Study completion30 Jun 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Friedreich AtaxiaStudies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire de NiceThe 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
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 40 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de Nice
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07013292
- Sponsor's protocol ID
- 25Neuro02
- Status last verified
- May 2025
- First submitted
- 23 May 2025
- Last updated
- 29 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Retrospective Bicentric Study in a Cohort of French Friedreich's Ataxia Patients on the 6-month Efficacy of Omaveloxolone Treatment on Dysphagia.
- ClinicalTrials.gov ID
- NCT07013292
- Acronym / sponsor ID
- 25Neuro02
- Conditions
- Friedreich Ataxia
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire de NiceUniversity, hospital or other
- Study start
- 1 Jun 2025 (actual)
- Primary completion
- 30 Jun 2026 (estimated)
- Study completion
- 30 Jun 2026 (estimated)
- First posted
- 10 Jun 2025 (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.
Friedreich's ataxia (FA) is a rare, inherited neurodegenerative disease that typically begins in children and young people. It primarily affects the spinal cord, peripheral nerves and cerebellum of the brain. Clinical manifestations include progressive gait and limb ataxia, auditory and optic neuropathy, cardiomyopathy, scoliosis, dysarthria, and dysphagia. In advanced stages, individuals may become wheelchair-dependent, leading to a severe loss of autonomy and reduced life expectancy. To date, there are no effective treatments known to reverse or halt disease progression. Heart disease remains the leading cause of death in individuals with FA. In January 2024, Omaveloxolone was approved for early access in France to treat FA in patients aged 16 years and older. Dysphagia is a central manifestation in FA, and may lead to severe complications such as malnutrition, dehydration, and aspiration-related pneumonia, as well as reduced self-esteem and social isolation. Despite its clinical relevance, dysphagia remains underexplored in clinical trials, including in major Omaveloxolone studies where no specific tool for measuring dysphagia has been incorporated. This study aimed to comprehensively evaluate the effect of Omaveloxolone on dysphagia after six months of treatment, in a cohort of French patients with Friedreich's ataxia who benefited from early access to treatment between February 2024 and May 2025. The severity of dysphagia will be assessed using the Sydney Swallow Questionnaire (SSQ), completed by patients at baseline and after six months of Omaveloxolone treatment.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with Friedreich ataxia treated with Omaveloxolone | – | Drug: SKYCLARYS (omaveloxolone)SKYCLARYS (omaveloxolone) |
Who may qualify
- Ages
- 16 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The study population will be selected from two public hospitals in France Lille and Nice where patients with genetically confirmed Friedreich's ataxia were treated with early access Omaveloxolone treatment.
Key inclusion criteria (3 listed)
- Aged ≥ 16 Years
- Confirmed diagnosis of Friedreich's ataxia, genetically verified.
- Omaveloxolone therapy between February 2024 and May 2025, having receive treatment for at least 6 months.
Key exclusion criteria (2 listed)
- Participants who interrupted treatment permanently before 6 months.
- Participants who did not complete the SSQ (Sydney swallow Questionnaire) at baseline and after 6 months of treatment.
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 |
|---|---|---|
| SKYCLARYS (omaveloxolone)Skyclarys is indicated for the treatment of Friedreich's ataxia in adults and adolescents aged 16 and over. Opaque capsule with "RTA 408" printed in white ink on the light green body and "50" printed in white ink on the blue cap. Capsules (size 0) measure 21.7 ± 0.3 mm in length and the outer diameter of the cap is 7.64 ± 0.06 mm. Omaveloxolone should be initiated and monitored by physicians experienced in treating patients with patients with Friedreich's ataxia. The recommended dose is 150 mg omaveloxolone (3 x 50 mg capsules) once daily. | Drug | Patients with Friedreich ataxia treated with Omaveloxolone |
Primary outcome
Evaluate the progression of dysphagia after 6 months of treatment with Omaveloxolone.
Time frame: At the time of treatment initiation and after 6 months of Omaveloxolone treatment
The SARA (Scale for the Assessment and Rating of Ataxia) questionnaire has eight categories with accumulative score ranging from 0 (no ataxia) to 40 (most severe ataxia). Participants will be divided into three groups based on the SARA score. The analysis will compare the mean SSQ (Sydney Swallow Questionnaire) score within each group at the beginning of treatment and again after six months. Additionally, variations in SSQ scores across the three groups will be evaluated to identify any differences in the progression of dysphagia.
5 secondary outcomes
Comparison between SSQ (Sydney Swallow Questionnaire) and SARA (Scale for the Assessment and Rating of Ataxia) scores
Time frame: At the time of treatment initiation and after 6 months of Omaveloxolone treatment
Correlation after 6 months of treatment between SARA (Scale for the Assessment and Rating of Ataxia) and SSQ (Sydney Swallow Questionnaire) scores.
Time frame: At the time of treatment initiation and after 6 months of Omaveloxolone treatment
Impact of functional status (ambulant vs. non-ambulant) on dysphagia
Time frame: At the time of treatment initiation and after 6 months of Omaveloxolone treatment
Correlation between GAA expansion size and dysphagia (SSQ score) Sydney Swallow Questionnaire
Time frame: At the time of treatment initiation and after 6 months of Omaveloxolone treatment
Correlation between (GAA expansion) size GAA: a repeated sequence of three nucleotides: guanine (G), adenine (A), adenine (A) in DNA. and the evolution of neurological damage ( SARA score) Scale for the Assessment and Rating of Ataxia
Time frame: At the time of treatment initiation and after 6 months of Omaveloxolone treatment
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 29 Apr 2026.
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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.
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 Ataxia, run by Centre Hospitalier Universitaire de Nice at 1 site in France.
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 3 inclusion and 2 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: looking for participants now, as of the sponsor's last update on 29 Apr 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 France. 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?
Contact Andra EZARU (04 92 03 96 55 ext. +33, ezaru.a@chu-nice.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Evaluate the progression of dysphagia after 6 months of treatment with Omaveloxolone. (time frame: At the time of treatment initiation and after 6 months of Omaveloxolone treatment). 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 29 Apr 2026.