David R. Lynch, MD, PhD

An expert discusses how vatiquinone targets Friedreich ataxia in patients with balance issues by inhibiting 15-lipoxygenase to reduce oxidative stress. Novel dual-route gene therapy combines systemic IV and targeted dentate nuclei delivery, addressing both central and peripheral manifestations while potentially offering disease-modifying benefits.

An expert discusses how omaveloxolone is a nuclear factor erythroid 2-related factor 2 (Nrf2) activator that addresses oxidative stress and mitochondrial dysfunction in Friedreich ataxia. It works by binding to Keap1, which releases Nrf2 to enter the nucleus and upregulate antioxidant genes. Clinical trials showed modest improvements in neurological function, as measured by modified Friedreich Ataxia Rating Scale scores. Adverse effects include headache, nausea, and elevated liver enzymes. Omaveloxolone has been integrated into clinical practice as part of multidisciplinary care, requiring regular monitoring and coordination with physical therapy, cardiology, and other specialties.

An expert discusses how Friedreich ataxia significantly impacts quality of life through progressive neurological deterioration affecting mobility, coordination, and cardiovascular health. Standard care includes symptom management with physical/occupational therapy and cardiac monitoring for both pediatric and adult patients. Multidisciplinary teams (neurologists, cardiologists, therapists, and genetic counselors) coordinate comprehensive care addressing the disease's multisystem effects.

An expert discusses how Friedreich ataxia is an autosomal recessive neurodegenerative disorder caused by trinucleotide (GAA) repeat expansion in the FXN gene, reducing frataxin protein production. This leads to mitochondrial dysfunction and progressive damage to the spinal cord, peripheral nerves, and heart. Patients present with progressive ataxia, dysarthria, sensory loss, and areflexia, typically manifesting between ages 5 and 15. Diagnosis relies on clinical assessment, genetic testing for GAA expansions, and supportive findings, including cardiomyopathy, scoliosis, and diabetes.

The professor of neurology at the University of Pennsylvania Perelman School of Medicine provided clinical insight on a long-term safety analysis of omaveloxolone, the first FDA-approved treatment for Friedreich ataxia. [WATCH TIME: 4 minutes]

The professor of neurology at the University of Pennsylvania Perelman School of Medicine discussed whether omaveloxolone’s therapeutic benefit is enough for it to become the first approved therapy for Friedrich ataxia. [WATCH TIME: 2 minutes]

The professor of neurology at the University of Pennsylvania Perelman School of Medicine discussed his presentation at MDS 2021, which highlighted the therapeutic benefit of omaveloxolone in Friedreich ataxia. [WATCH TIME: 2 minutes]