Friedreich’s Ataxia | Niche & Rare Disease Landscape & Forecast | US/EU5 | 2016

Friedreich’s ataxia (FA) is an autosomal recessively inherited disease that occurs in Caucasians with an average prevalence far less common than the 1 in 200,000 threshold that is generally accepted to classify a disease as rare. FA is a progressive neurodegenerative multi-system disease caused by a mutation in the gene encoding the mitochondrial protein frataxin; FA is most commonly caused by a guanine–adenine–adenine (GAA) triplet repeat expansion within the first intron of the frataxin gene ( FXN ), resulting in deficient levels of frataxin protein. FA is characterized by gait instability (, a debilitating loss of balance and coordination in all four limbs), which leads to dependence on walking aids or a wheelchair within 10–15 years after onset of the disease; age at onset is typically at or around the time of puberty. Cardiac involvement is evident in the majority of patients, with cardiomyopathy occurring mostly in patients with early-onset FA and in whom it may be life-threatening. Diagnosis is made based on family history and symptom presentation, with confirmation of FA by genetic testing. There are no treatments or cure for FA, so patients rely on medications that can attenuate their symptoms. The late-stage pipeline for FA is dominated by Horizon Pharma’s Actimmune, a therapy that will help fulfill some unmet needs in the FA market. While the FA pipeline consists of a variety of emerging therapies with distinct mechanisms of action, most of these therapies are in Phase II or earlier stages of development. There remains a high unmet need for disease-modifying therapies that can slow or halt the disease progression of FA, and there remains tremendous commercial opportunity for developers in this relatively untapped market.