Early Experience on Omaveloxolone in Adult Patients with Friedreich’s Ataxia: A Real-world Observational Study
Salvatore Maria Lima1, Marta Caltagirone1, Christian Messina1, Nicasio Rini1, Umberto Quartetti1, Flora D'Amico1, Paolo Alonge1, Filippo Brighina1, Vincenzo Di Stefano1
1Department of Biomedicines, Neuroscience and Advanced Diagnostic (BIND), University of Palermo
Objective:
With this study, we report an early real-life experience on a cohort of Friedreich's Ataxia patients, treated with a very recently drug: Omaveloxolone.
Background:
Friedreich’s ataxia (FRDA) is an autosomal recessive neurodegenerative spinocerebellar ataxia caused by a homozygous GAA triplet repeat expansion in the frataxin gene. FRDA is a multisystem disorder involving the central and peripheral nervous systems, the musculoskeletal system, the heart, and the endocrine pancreas. Omaveloxolone, a potent activator of nuclear factor erythroid 2-related factor 2 signaling, showed a significant neurological improvement compared to placebo, with a good safety profile.
Design/Methods:
This is a real-world, observational study. Patients were assessed with an anamnestic profile, clinical scales (mFARS, SARA, FA-ADL) and blood tests, at baseline, at 12 weeks and at 24 weeks of treatment. Inclusion criteria were genetical diagnosis of FRDA, age ≥ 18 years old and mFARS < 80. Exclusion criteria included severe hepatic and renal impairment, and severe heart failure. Each patient received oral Omaveloxolone at a dose of 150 mg/day.
Results:
Twenty patients affected by FRDA aged 40.6±12.6 years and a duration of disease of 24.9±9.5 years were treated with Omav and followed up for 25.2±8.0 weeks. The drug was safe with no significant adverse event during the first 24 weeks and without discontinuations. Asymptomatic and transient liver transaminase elevation occurred in 50% of patients. Cardiac function, NT-proBNP and lipids was stable. Clinical scales did not show any significant difference during follow-up, but a significant reduction in IL-6 was reported.
Conclusions:
Omav seems to be safe and well-tolerated in adult FRDA patients in the real-life setting. Stabilization of neurological symptoms are very promising, as well as the improvement of inflammatory biomarkers, but no predictive factors for the disease response have been identified. However, the short duration, and the small sample size limit the generalizability of the results.
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