P289: Disease characteristics and tissue frataxin concentrations in adults with Friedreich’s ataxia participating in nomlabofusp interventional studies

During the clinical development of therapies targeting rare genetic diseases, it is important to include study participants whose characteristics represent a broad range of the affected population in order to generalize study findings across the spectrum of patients living with the disease. Friedreich’s ataxia (FRDA) is a rare autosomal recessive disease in which guanine adenine adenine (GAA) repeat expansions result in partial gene silencing and decreased production of the protein frataxin (FXN).