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An In Silico Analysis of Genetic Variants and Structural Modeling of the Human Frataxin Protein in Friedreich's Ataxia.
Int J Mol Sci
May 2024
Laboratory of Bioinformatics and Computational Biology, Federal University of the State of Rio de Janeiro (UNIRIO), Avenida Pasteur, 296, Urca, Rio de Janeiro 22290-250, Brazil.
Article Synopsis
- * The disease is linked to mutations in the frataxin (FXN) gene that disrupt iron regulation within cells, causing harmful iron buildup and oxidative stress that lead to neuron death.
- * A study analyzed 226 FXN genetic variants, confirming a majority have harmful effects on protein function, and created a 3D model of FXN to understand significant mutations (I154F and W155R), revealing they disrupt essential protein interactions critical for its maturation. *
Relative Bioavailability of Omaveloxolone When Capsules Are Sprinkled Over and Mixed in Applesauce Compared With Administration as Intact Omaveloxolone Capsules: A Phase 1, Randomized, Open-Label, Single-Dose, Crossover Study in Healthy Adults.
J Clin Pharmacol
October 2024
Biogen Inc., Cambridge, Massachusetts, USA.
Article Synopsis
- Omaveloxolone (SKYCLARYS) is now approved to treat Friedreich ataxia in patients 16 and older in the U.S. and EU, with a recommended dose of 150 mg daily.
- A study tested the option of sprinkling the capsule contents on applesauce for patients who struggle to swallow capsules, with results showing similar drug absorption compared to taking intact capsules.
- The sprinkled method was found to be well tolerated, with no serious side effects, and is now included in prescribing information for both the U.S. and EU.
Pharmacotherapeutic strategies for Friedreich Ataxia: a review of the available data.
Expert Opin Pharmacother
April 2024
Friedreich Ataxia Program, Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Article Synopsis
- Friedreich ataxia (FRDA) is a rare genetic disorder that leads to various health issues like coordination loss and problems with the nervous and cardiovascular systems, with only one FDA-approved treatment available.
- The disease is caused by a lack of the frataxin protein, which results in mitochondrial dysfunction; currently, omaveloxolone (Skyclarys) is the sole approved treatment for managing FRDA symptoms.
- While omaveloxolone marks significant progress in treatment, it's not a cure, and future therapies involving gene therapy or other innovative approaches may offer more effective, long-term solutions.
Omaveloxolone: First Approval.
Drugs
June 2023
Springer Nature, Private Bag 65901, Mairangi Bay, Auckland, 0754, New Zealand.
Article Synopsis
- - Omaveloxolone (SKYCLARYS™) is a new oral medication developed by Reata Pharmaceuticals to treat Friedreich's ataxia, a condition linked to nerve cell damage caused by oxidative stress.
- - The drug works by activating the Nrf2 pathway, which helps protect cells from damage by increasing antioxidant activity and preventing the breakdown of Nrf2.
- - In February 2023, omaveloxolone received FDA approval for treating Friedreich's ataxia in adults and adolescents aged 16 years and older, marking a significant milestone in its development.
Omaveloxolone (Skyclarys) for patients with Friedreich's ataxia.
Trends Pharmacol Sci
June 2023
Division of Cellular and Systems Medicine, University of Dundee School of Medicine, Dundee, UK; Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address:
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