Study of the Disease Process of Lymphangioleiomyomatosis

Pulmonary lymphoangioleiomyomatosis (LAM) is a destructive lung disease typically affecting women of childbearing age. Currently, there is no effective therapy for the disease and the prognosis is poor.

Official Title

Characterization of the Pathogenesis of Lymphangioleiomyomatosis (LAM)

Conditions

– Leiomyomatosis- Lung Disease- Pneumothorax- Tuberous Sclerosis

Study Type

Observational

Study Design

Natural History

Further Details

This study is designed to determine the disease processes involved at the level of cells and molecules, in order to develop more effective therapy. Researchers plan to identify the proteins and factors that contribute to lung destruction by using bronchoalveolar lavage and lung biopsy to collect samples from the involved lung. Individuals with pulmonary lymphangioleiomyomatosis develop severe destructive lung disease. Most of them are females of childbearing age. Currently, there is no effective therapy and the prognosis is poor. 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 therapy. To accomplish this, we intend to identify the proteins and genes that contribute to the process of lung destruction in affected individuals.

Study Start

Eligibility & Criteria

Genders Eligible for Study: Both Accepts Healthy VolunteersCriteria INCLUSION CRITERIA:General admission criteria for patients include one or both of the following:Findings on lung biopsy diagnostic of LAM;Findings on chest x-ray and/or chest computed axial tomography consistent with LAM.Patients with TSC and pulmonary LAM will be included in the study.Normal non-smokers in the control group are defined as individuals who have not smoked for greater than or equal to 1 year and have no systemic or pulmonary disease.Normal smokers defined as individuals with no systemic or pulmonary disease, who have smoked for greater than or equal to 1 year and have normal chest x-ray and normal pulmonary function tests may be included if needed as controls for a similar population of patients with LAM.EXCLUSION CRITERIA:Exclusion criteria for patients and normal volunteers include:Age less than 18.Advanced stage of a pulmonary or a systemic illness in which the risk of the study is judged to be significant even in the absence of a clear contraindication to the procedures.Individuals who are taking birth control pills will not be excluded.

Total Enrolment

999

Contact Details

[1] National Heart, Lung, and Blood Institute (NHLBI) (US)