mTOR inhibitors in tuberous sclerosis complex

Paolo Curatolo, Romina Moavero

Research output: Contribution to journalArticlepeer-review


Tuberous sclerosis complex (TSC) is a genetic multiple organ system disorder that is characterized by the development of tumor-like lesions (hamartomas) and neurodevelopmental disorders. Mutations in the TSC1 and TSC2 tumor suppressor genes occur in the majority of patients with TSC, resulting in hyperactivation of the mammalian target of rapamycin (mTOR) signaling pathway and subsequent abnormalities in numerous cell processes. As a result, mTOR inhibitors such as sirolimus and everolimus have the potential to provide targeted therapy for patients with TSC. Everolimus is the first mTOR inhibitor approved as a treatment option in the USA and in Europe for patients with subependymal giant-cell astrocytomas (SEGAs) associated with TSC. The clinical evidence to date supports the use of mTOR inhibitors in a variety of TSC-associated disease manifestations, including SEGAs, renal angiomyolipoma, skin manifestations, and epilepsy. Furthermore, ongoing clinical trials evaluating mTOR inhibitors in TSC are underway, and the results of these studies are expected to provide further evidence that will firmly establish their role in this setting. This article will discuss the role of the mTOR pathway in TSC and review the pharmacokinetics, pharmacodynamics, clinical efficacy, and tolerability of mTOR inhibitors, along with their current place in clinical practice.

Original languageEnglish
Pages (from-to)404-415
Number of pages12
JournalCurrent Neuropharmacology
Issue number4
Publication statusPublished - 2012


  • Angiomyolipoma
  • Epilepsy
  • Everolimus
  • mTOR inhibition
  • Subependymal giant cell astrocytoma
  • Tuberous sclerosis complex

ASJC Scopus subject areas

  • Clinical Neurology
  • Pharmacology (medical)
  • Pharmacology
  • Neurology
  • Psychiatry and Mental health


Dive into the research topics of 'mTOR inhibitors in tuberous sclerosis complex'. Together they form a unique fingerprint.

Cite this