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Abstract Details

Early Experience on Omaveloxolone in Adult Patients with Friedreich’s Ataxia: A Real-world Observational Study
Movement Disorders
P4 - Poster Session 4 (8:00 AM-9:00 AM)
16-006

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.
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.

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. 
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. 
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.
Authors/Disclosures
Salvatore Maria Lima, MD
PRESENTER 		Dr. Lima has nothing to disclose.
Marta Caltagirone, Medical student Miss Caltagirone has nothing to disclose.
Christian Messina, MD Dr. Messina has nothing to disclose.
Nicasio Rini, MD Dr. Rini has nothing to disclose.
Umberto Quartetti, MD Dr. Quartetti has nothing to disclose.
Flora DAmico, MD Dr. DAmico has nothing to disclose.
Paolo Alonge, MD Dr. Alonge has nothing to disclose.
Filippo Brighina, MD (University of Palermo) Prof. Brighina has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Novartis. Prof. Brighina has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for TEVA. Prof. Brighina has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Lilly. Prof. Brighina has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Alnylam Pharmaceuticals.
Vincenzo Di Stefano, MD, PhD Dr. Di Stefano has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen.