Toward targeted treatments in tuberous sclerosis

Romina Moavero, Federica Graziola, Gloria Romagnoli, Paolo Curatolo*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review


Introduction. Tuberous Sclerosis Complex (TSC) is an autosomal-dominant disease caused by the loss of function of the heterodimeric complex hamartin/tuberin due to TSC1/TSC2 gene mutation. The consequent abnormal activation of mammalian target of rapamycin (mTOR), a serine threonine kinase regulating cellular growth, metabolism and proliferation, is responsible for the structural and functional abnormalities observed in TSC. mTOR inhibitors are a class of drugs specifically targeting the mTOR pathway with promising benefits as a specific targeted treatment of the disease. Areas covered. We have reviewed the literature focusing on the role of mTOR inhibitors in treating TSC-related conditions. They are currently approved for subependymal giant cell astrocytomas, renal angiomyolipomas and more recently for lymphangioleiomyomatosis, but a promising role has been shown also in the other clinical manifestation characteristics of TSC, such as cardiac rhabdomyomas, facial angiofibromas and epilepsy. Expert opinion. mTOR inhibition is considered a disease-modifying therapy and the best approach to prevent the progress of the natural history of the disease. For the first time we have the possibility not only to use a biologically targeted treatment, but also to address different manifestations at the same time, thus significantly improving the therapeutic outlook in this complex disease.

Original languageEnglish
Pages (from-to)243-253
Number of pages11
JournalExpert Opinion on Orphan Drugs
Issue number3
Early online date2 Dec 2015
Publication statusPublished - 2016

Bibliographical note



  • everolimus
  • mTOR
  • mTOR inhibitors
  • rapamycin
  • treatment
  • tuberous sclerosis complex


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