No safety concerns were identified. Supratherapeutic omaveloxolone exposure that covers the worst-case clinical exposure did not cause a clinically significant QTc prolongation and was generally well tolerated.
Sunday, February 23, 2025
Effect of a Supratherapeutic Dose of Omaveloxolone on the Corrected QT Interval in Healthy Participants: A Randomized, Double-Blind, Placebo- and Active-Controlled, Three-Way Crossover Study
Zahir H, Murai M, Wu L, Valentine M, Hynes SM. Effect of a Supratherapeutic Dose of Omaveloxolone on the Corrected QT Interval in Healthy Participants: A Randomized, Double-Blind, Placebo- and Active-Controlled, Three-Way Crossover Study. Clin Transl Sci. 2025 Feb;18(2):e70139. doi: 10.1111/cts.70139. PMID: 39976332; PMCID: PMC11840845.
Multiple Sclerosis in a Patient with Friedreich's Ataxia
Yu Y, Kushlaf H. Multiple Sclerosis in a Patient with Friedreich's Ataxia (P4-6.016). Neurology. 2024 Apr 9;102(7_supplement_1):3347. doi: 10.1212/WNL.0000000000205077. Epub 2024 Apr 9. PMID: 39977947.
The definitive diagnosis of multiple sclerosis in a FRDA patient is novel and requires careful reconciliation of the symptoms, clinical exam findings, and ancillary testing. The development of symptoms incompatible with FRDA should prompt clinicians to consider additional neurologic diagnoses.
Healthcare delay in neurogenetic disorders of adult onset and the role of predictive genetic testing
Rocha, D.L., Pinheiro, J.d., Furtado, G.V. et al. Healthcare delay in neurogenetic disorders of adult onset and the role of predictive genetic testing. J Community Genet (2025). doi:10.1007/s12687-025-00777-4
Healthcare delay (HCDe) is an important but not well-known issue in genetic disorders, especially in tandem nucleotide repeat expansion diseases (TNRED). We aimed to investigate it and determine whether predictive genetic testing (PGT) and other factors may impact HCDe.
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