Sirolimus for Angiomyolipoma and Lymphangioleiomyomatosis

Encouraging evidence of effectiveness, but also some serious adverse effects, from a phase I/II clinical trial

Tuberous sclerosis complex (TSC) involves hamartomas in various organs, including the brain, lungs, kidneys, and liver. Identification of the genes involved has revealed the importance of the mammalian target of rapamycin (mTOR) pathway in the disorder’s pathogenesis. In this open-label, nonrandomized trial, 25 patients with renal angiomyolipoma (AML) or lymphangioleiomyomatosis (LAM) received sirolimus, an mTOR inhibitor, for 12 months, followed by 12 months of observation off treatment. The 18 patients with LAM included 12 women with TSC-associated LAM and 6 with sporadic LAM. Endpoints were MRI-assessed volume of AML and of pulmonary cysts, and results of pulmonary function tests.

The mean renal AML volume decreased significantly during t…

Reviewing Authors

Bruce R. Korf, MD, PhD

Martina E. Bebin, MD