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

Официальное название

Retrospective Bicentric Study in a Cohort of French Friedreich's Ataxia Patients on the 6-month Efficacy of Omaveloxolone Treatment on Dysphagia.

Обзор

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.

Вмешательства

• Препарат 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 o

Первичные конечные точки

• Evaluate the progression of dysphagia after 6 months of treatment with Omaveloxolone. [Срок оценки: At the time of treatment initiation and after 6 months of Omaveloxolone treatment]

Вторичные конечные точки (5)

• Comparison between SSQ (Sydney Swallow Questionnaire) and SARA (Scale for the Assessment and Rating of Ataxia) scores [Срок оценки: 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. [Срок оценки: At the time of treatment initiation and after 6 months of Omaveloxolone treatment]
• Impact of functional status (ambulant vs. non-ambulant) on dysphagia [Срок оценки: 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 [Срок оценки: 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 [Срок оценки: At the time of treatment initiation and after 6 months of Omaveloxolone treatment]

Критерии участия

Критерии включения

• 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.

Критерии исключения

• 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.

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения

Когортное

Центры проведения

Франция · 1 центр

• CHU NICE — Nice

Идентификаторы

NCT: NCT07013292 · 25Neuro02

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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