The exciting news about the US FDA approval of omaveloxolone as the first-ever drug to be approved for an inherited ataxia is welcome news for patients and families that deal with this devastating disease as well as for health care providers and investigators with an interest in this and other rare diseases. This event is the culmination of long and fruitful collaboration between patients, their families, clinicians, laboratory researchers, patient advocacy organizations, industry, and regulatory agencies. The process has generated intense discussion about outcome measures, biomarkers, trial design, and the nature of approval process for such diseases. It also has brought hope and enthusiasm for increasingly better therapies for genetic diseases in general.
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Poincaré plot analysis of electrocardiogram uncovers beneficial effects of omaveloxolone in a mouse model of Friedreich ataxia.
Heart Rhythm
January 2025
Department of Molecular Biosciences, University of California, Davis, California; Department of Basic Sciences, California Northstate University, Elk Grove, California. Electronic address:
Background: Friedreich ataxia (FA) is a rare inherited neuromuscular disorder whereby most patients die of lethal cardiomyopathy and arrhythmias. Mechanisms leading to arrhythmic events in patients with FA are poorly understood.
Objective: This study aimed to examine cardiac electrical signal propagation in a mouse model of FA with severe cardiomyopathy and to evaluate effects of omaveloxolone (OMAV), the first Food and Drug Administration-approved therapy.
Safety and efficacy of omaveloxolone v/s placebo for the treatment of Friedreich's ataxia in patients aged more than 16 years: a systematic review.
Orphanet J Rare Dis
December 2024
Discovery Research Division, Indian Council of Medical Research (ICMR) Headquarters, V. Ramalingaswami Bhawan, Ansari Nagar, P.O. Box 4911, New Delhi, 110029, India.
Background: Friedreich's ataxia (FA) is a rare genetic disorder caused by silencing of the frataxin gene (FXN), which leads to multiorgan damage. Nrf2 is a regulator of FXN, which is a modulator of oxidative stress in animals and humans. Omaveloxolone (Omav) is an Nrf2 activator and has been reported to have antioxidative potential in various disease conditions.
View Article and Find Full Text PDFRTA408 alleviates lipopolysaccharide-induced acute lung injury via inhibiting Bach1-mediated ferroptosis.
Int Immunopharmacol
December 2024
Wuxi School of Medicine, Jiangnan University, 1800 Lihu Avenue, Wuxi 214122, Jiangsu Province, PR China. Electronic address:
The approved traditional Asian medicine RTA408 (Omaveloxolone) has demonstrated potent anti-inflammatory properties in the treatment of Friedreich's ataxia. However, its effect on lipopolysaccharide (LPS)-induced acute lung injury (ALI) remains poorly understood. This study aims to evaluate the effect of RTA408 on LPS-induced ALI and elucidate its underlying mechanisms.
View Article and Find Full Text PDFRepurposing of a library for high-content screening of inhibitors against Echinococcus granulosus.
Parasit Vectors
September 2024
State Key Laboratory Incubation Base of Xinjiang Major Diseases Research, Clinical Medical Research Institute, First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830054, China.
Background: Cystic echinococcosis (CE) is a zoonotic disease caused by the larval stage of the dog tapeworm Echinococcus granulosus sensu lato (E. granulosus), with a worldwide distribution. The current treatment strategy for CE is insufficient.
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