Everolimus: an mTOR inhibitor for the treatment of tuberous sclerosis.

Tuberous sclerosis complex (TSC) is a devastating disease affecting virtually all organ systems of the body and is characterized by multiple hamartomas and neurodevelopmental disorders. The majority of patients with TSC have mutations in TSC1 or TSC2, resulting in constitutive activation of mTOR. Because the pathogenesis of the disease is mTOR hyperactivity, mTOR inhibitors have the potential to treat the underlying cause in TSC patients. Everolimus is the first mTOR inhibitor approved in the USA for the treatment of patients with subependymal giant-cell astrocytomas (SEGAs) associated with TSC. Evidence supports and ongoing studies are evaluating the role of mTOR inhibitors in the treatment of a wide spectrum of disease manifestations, including reduction in tumor volume (SEGAs, renal angiomyolipoma) and improvement in epilepsy, lung function and skin manifestations, including facial angiofibromas. In time, the use of mTOR inhibitors in patients with TSC will likely be very well established.