Clinical trial NCT07013292: Efficacy of Omaveloxolone Treatment for Dysphagia in French Patients With Friedreich's Ataxia
Official title: Retrospective Bicentric Study in a Cohort of French Friedreich's Ataxia Patients on the 6-month Efficacy of Omaveloxolone Treatment on Dysphagia.
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: Friedreich Ataxia
Lead sponsor: Centre Hospitalier Universitaire de Nice
Sponsor class: OTHER
First posted: 2025-06-10
Enrollment: 40
Sex: ALL
Minimum age (years): 16
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
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.

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.


Eligibility criteria: 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.

Primary outcomes:
measure: Evaluate the progression of dysphagia after 6 months of treatment with Omaveloxolone.
timeFrame: At the time of treatment initiation and after 6 months of Omaveloxolone treatment
Secondary outcomes:
measure: Comparison between SSQ (Sydney Swallow Questionnaire) and SARA (Scale for the Assessment and Rating of Ataxia) scores
timeFrame: At the time of treatment initiation and after 6 months of Omaveloxolone treatment
measure: Correlation after 6 months of treatment between SARA (Scale for the Assessment and Rating of Ataxia) and SSQ (Sydney Swallow Questionnaire) scores.
timeFrame: At the time of treatment initiation and after 6 months of Omaveloxolone treatment
measure: Impact of functional status (ambulant vs. non-ambulant) on dysphagia
timeFrame: At the time of treatment initiation and after 6 months of Omaveloxolone treatment
measure: Correlation between GAA expansion size and dysphagia (SSQ score) Sydney Swallow Questionnaire
timeFrame: At the time of treatment initiation and after 6 months of Omaveloxolone treatment
measure: 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
timeFrame: At the time of treatment initiation and after 6 months of Omaveloxolone treatment
Other outcomes:
Locations:
city: Nice
country: France
facility: CHU NICE
state: Alpes Maritimes
Study officials:
References: