The Importance of Early Recognition, Diagnosis, and Treatment of Friedreich Ataxia

At the 2024 European Association of Neurology (EAN) Congress, one satellite symposium discussed the recognition, diagnosis, and treatment of Friedreich ataxia (FA), the most common hereditary ataxia. This condition is characterised by progressive neurodegeneration, multisystem complications, loss of ambulation, and reductions in the ability to carry out activities of daily living (ADL). For many, there is also a premature death. FA is caused by guanine-adenine-adenine triplet (GAA) repeat expansions in the gene FXN. This codes for the protein frataxin, loss of which is associated with impaired mitochondrial function, increased sensitivity to oxidative stress and reactive oxygen species levels, increased inflammation, and cell death. Decreased frataxin leads to the symptoms of FA, including increasing spasticity, pain, dysphagia, cardiac problems, speech impairment, pes cavus, and scoliosis. The speakers highlighted how delays in diagnosis can occur when FA is mistaken for other ataxias and they called for the use of genetic and biochemical testing early in the patient pathway. This is best accomplished by prompt referral to specialists in ataxia. Treatment and care for patients with FA, along with their families, require a multidisciplinary approach involving allied healthcare professionals, among other specialists. Effective communication and support amongst such networks is key to providing individualised treatment where a patient’s health and disease progression are regularly monitored and associated conditions are treated appropriately. Currently, the only approved FA-specific drug treatment in the EU and the USA for patients 16 years and older is omaveloxolone. Clinical trials of this drug have shown that it can provide a sustained benefit in slowing disease progression over a 3-year period in patients aged 16 years and older. This benefit is particularly evident when omaveloxolone prescription is not delayed. In the future, other pipeline drugs are expected to add to potential disease-slowing treatments for FA.