Study of the Disease Process of Lymphangioleiomyomatosis

Individuals with pulmonary lymphangioleiomyomatosis develop severe destructive lung disease. Many of them are females of childbearing age. Currently, sirolimus is a proven therapy, but it is not effective in all patients and the prognosis is variable. This study is designed to (a) define the clinical course of the disease and (b) elucidate the pathogenesis of the disease at the cellular and molecular levels, in order to develop more effective therapies. To accomplish this, we intend to identify the proteins and genes that contribute to the process of lung destruction in affected individuals.