Tuberous sclerosis future or investigational therapies

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: José Eduardo Riceto Loyola Junior, M.D.[2]

There are many molecular targets available for treating TSC, but the mTOR inhibitors have just been recently added to the treatment of the disease. New therapies are being currently developed and investigated.

Several trials approaching the cellular targets of hamartin and tuberin are under way. Trials of sirolimus use in patients with TSC and sporadic cases of lymphangioleiomyomatosis are ongoing.^[1]

The use of mTOR inhibitors have been greatly expanded on these patients due to the conclusion of many clinical trials, and many are still in development. The use of sirolimus in lymphangioleiomyomatosis in women have been supported by the MILES trial. The trials EXIST-1 and EXIST-2 are ongoing to evaluate systemic everolimus therapy for subependymal giant cell astrocytoma and angiomyolipoma.

The higher level of estrogen in women is believed to be a major factor on the development of angiomyolipomas. This could have implications on women using oral contraception or hormone-replacement therapy.^[2]

Prevention of seizures in TSC patients is being studied by the EPISTOP trial.