Prospective Observational Study of Extracellular Vesicles as Biomarkers of Lung Involvement in Women With Sporadic Lymphangioleiomyomatosis and Tuberous Sclerosis Complex-Associated LAM

What this Trial Is About

Researchers are studying Lymphangioleiomyomatosis (LAM), a rare lung disease associated with Tuberous Sclerosis Complex (TSC) or occurring sporadically, which involves abnormal mTORC1 activation. The study focuses on extracellular vesicles (EVs), tiny particles that may help understand tumor progression and serve as biomarkers for disease. The research is conducted at the Pulmonology Unit of ASST Santi Paolo e Carlo and the Pharmacology Laboratory of the University of Milan, aiming to analyze serum EVs in patients with LAM and TSC. The study involves collecting clinical and functional data along with blood samples during scheduled outpatient visits. Plasma is separated from blood, and EVs are isolated using centrifugation. These EVs are then examined for their size, concentration, and molecular content including proteins, lipids, and nucleic acids. Participants include women with sporadic LAM, TSC-associated LAM, TSC without lung involvement, and healthy subjects. Participants will undergo pulmonary function tests such as spirometry, plethysmography, diffusing capacity for carbon monoxide, and a six-minute walk test. Researchers will analyze the EVs for number and shape, and perform omics analyses to study their molecular makeup. The study measures the differences among groups and examines links between EVs, disease severity, lung involvement, and treatment effects. Participation includes regular visits for data and sample collection over one year, with ongoing evaluation of clinical and functional outcomes.

Role of Extracellular Vesicles as Biomarkers of Pulmonary Involvement in Patients With Lymphangioleiomyomatosis and Tuberous Sclerosis Complex