Publications by authors named "Katherine Gunther"
Friedreich ataxia is a progressive autosomal recessive neurodegenerative disorder characterized by ataxia, dyscoordination, and cardiomyopathy. A subset of patients with Friedreich ataxia have elevated levels of serum cardiac troponin I, but associations with disease outcomes and features of cardiomyopathy remain unclear. In this study, we characterized clinically obtained serum cardiac biomarker levels including troponin I, troponin T, and B-type natriuretic peptide in subjects with Friedreich ataxia and evaluated their association with markers of disease.
View Article and Find Full Text PDFPharmacotherapeutic strategies for Friedreich Ataxia: a review of the available data.
Expert Opin Pharmacother
April 2024
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.