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

University of Milan

Status: Enrolling

Conditions: Extracellular Vesicles; Generation and Function; Lymphangioleiomyomatosis (LAM)

Treatments: Diagnostic Test: Pulmonary Function Test; Diagnostic Test: Analysis of Extracellular Vesicles

Study type: Observational

Funder types: Other

Identifiers

NCT07304856

LAM_EVs

Details and patient eligibility

About

Lymphangioleiomyomatosis (LAM) is a rare lung disease, linked to Tuberous Sclerosis Complex (TSC) or occurring sporadically, and involves abnormal mTORC1 activation. LAM cells are neoplastic, and recent focus has turned to extracellular vesicles (EVs), which mediate tumor progression and may serve as biomarkers. This study, conducted at the Pulmonology Unit of ASST Santi Paolo e Carlo and the Pharmacology Laboratory of the University of Milan, will analyze the characteristics of serum EVs in patients with LAM and TSC. During scheduled outpatient visits, clinical and functional data and blood samples will be collected. Plasma will be separated, and EVs will be isolated via centrifugation. EVs will be analyzed for size, concentration, and molecular content (proteins, lipids, nucleic acids). The results obtained will be collected and correlated with the clinical and functional data.

Enrollment: 80 estimated patients

Sex: Female

Ages: 18 to 80 years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

Female participants aged ≥18 years Confirmed diagnosis of tuberous sclerosis complex (TSC) and/or lymphangioleiomyomatosis (definite diagnosis of TSC-LAM or S-LAM) Follow-up at the Pulmonology Unit of ASST Santi Paolo e Carlo, Milan Ability to provide written informed consent

Exclusion criteria

Diagnosis of "probable" or "possible" LAM Refusal to provide written informed consent

Trial design

80 participants in 4 patient groups

S-LAM

Description:

Patients with sporadic LAM

Treatment:

Diagnostic Test: Analysis of Extracellular Vesicles

Diagnostic Test: Pulmonary Function Test

TSC-LAM

Description:

Patients with TSC-associated LAM

Treatment:

Diagnostic Test: Analysis of Extracellular Vesicles

Diagnostic Test: Pulmonary Function Test

TSC

Description:

Patients with TSC and no pulmonary involvement

Treatment:

Diagnostic Test: Analysis of Extracellular Vesicles

Diagnostic Test: Pulmonary Function Test

Control

Description:

Healthy subjects

Treatment:

Diagnostic Test: Analysis of Extracellular Vesicles

Diagnostic Test: Pulmonary Function Test