Friedreich Ataxia
Conditions
Brief 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. 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.
Interventions
DRUGSKYCLARYS (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.
Sponsors
Centre Hospitalier Universitaire de Nice
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
16 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* 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.
Exclusion criteria
* 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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Evaluate the progression of dysphagia after 6 months of treatment with Omaveloxolone. | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Comparison between SSQ (Sydney Swallow Questionnaire) and SARA (Scale for the Assessment and Rating of Ataxia) scores | At the time of treatment initiation and after 6 months of Omaveloxolone treatment | 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. |
| Correlation after 6 months of treatment between SARA (Scale for the Assessment and Rating of Ataxia) and SSQ (Sydney Swallow Questionnaire) scores. | At the time of treatment initiation and after 6 months of Omaveloxolone treatment | After 6 months of treatment, the correlation between neurological damage measured by SARA and dysphagia measured by SSQ will be evaluated. |
| Impact of functional status (ambulant vs. non-ambulant) on dysphagia | At the time of treatment initiation and after 6 months of Omaveloxolone treatment | 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. |
| Correlation between GAA expansion size and dysphagia (SSQ score) Sydney Swallow Questionnaire | At the time of treatment initiation and after 6 months of Omaveloxolone treatment | Participants will be divided into 3 groups based on the size of the GAA expansion on the shorter allele and SSQ scores . |
| 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 | At the time of treatment initiation and after 6 months of Omaveloxolone treatment | 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 |
Countries
France
Contacts
CONTACTAndra EZARU
CONTACTAbderhmane Slioui
Outcome results
None listed