Efficacy of Omaveloxolone Treatment for Dysphagia in French Patients With Friedreich's Ataxia

Not yet recruiting

• Conditions: Friedreich Ataxia
• Interventions: Drug: SKYCLARYS (omaveloxolone)

• Registration Number: NCT07013292
• Lead Sponsor: Centre Hospitalier Universitaire de Nice

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.

Detailed Description

Not available

Study Timeline

• Status Verified: 2025-05
• Study First Submitted: 2025-05-23
• Study Start: 2025-06-01
• Study First Submitted QC: 2025-06-05
• Last Update Submitted: 2025-06-05
• Study First Posted: 2025-06-10
• Last Update Posted: 2025-06-10
• Primary Completion: 2025-09-30
• Study Completion: 2025-10-31

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 40

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Patients with Friedreich ataxia treated with Omaveloxolone	SKYCLARYS (omaveloxolone)	SKYCLARYS (omaveloxolone)

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
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.
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
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.
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 .

Trial Locations

Locations (1)

CHU NICE; 🇫🇷 Nice, Alpes Maritimes, France