Tuberous sclerosis future or investigational therapies: Difference between revisions
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== Overview == | |||
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.<ref>Crino, Peter B., Katherine L. Nathanson, and Elizabeth Petri Henske. "The tuberous sclerosis complex." ''New England Journal of Medicine'' 355.13 (2006): 1345-1356.</ref> | |||
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 [[Angiomyolipoma|angiomyolipomas]]. This could have implications on women using [[Contraception|oral contraception]] or [[hormone-replacement therapy]].<ref>Henske, Elizabeth P., et al. "Tuberous sclerosis complex." ''Nature reviews Disease primers'' 2.1 (2016): 1-18.</ref> | |||
Prevention of [[seizures]] in TSC patients is being studied by the EPISTOP trial. | |||
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==References== | ==References== | ||
Revision as of 23:51, 19 June 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
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.