Recruiting

Understanding Lymphangioleiomyomatosis (LAM) Disease Progression and Pathogenesis

Study Aim

This observational study aims to understand the clinical course and cellular and molecular mechanisms of Lymphangioleiomyomatosis (LAM), focusing on the proliferation of immature smooth muscle cells, the role of proteins and genetic factors in cyst formation and airway obstruction, and the contribution of TSC genes in the disease development.

What is being collected

Device Data

Collected from today forward - Prospective

Device

Who is being recruted

Congenital Abnormalities+27

+ Hamartoma

+ Hemic and Lymphatic Diseases

From 16 to 100 Years

+9 Eligibility Criteria

See all eligibility criteria

How is the trial designed

Cohort

Tracking disease incidence in order to identify risk factors and understand disease progression over time.

Observational

Study Start: December 1995

See protocol details

Summary

Principal SponsorNational Heart, Lung, and Blood Institute (NHLBI)

Study ContactTatyana A Worthy, R.N.More contacts

Last updated: June 24, 2026

Sourced from a government-validated database.Claim as a partner

Study start date: December 18, 1995

Actual date on which the first participant was enrolled.

Individuals with pulmonary lymphangioleiomyomatosis develop severe destructive lung disease. Most of them are females of childbearing age. Currently, there is no proven effective therapy 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 therapy. To accomplish this, we intend to identify the proteins and genes that contribute to the process of lung destruction in affected individuals.

NCT00001465

Principal SponsorNational Heart, Lung, and Blood Institute (NHLBI)

Study ContactTatyana A Worthy, R.N.More contacts

Last updated: June 24, 2026

Sourced from a government-validated database.Claim as a partner

Protocol

This section provides details of the study plan, including how the study is designed and what the study is measuring.

Design Details

2000 patients to be enrolled

Total number of participants that the clinical trial aims to recruit.

Cohort

These studies follow a group of individuals with common characteristics (such as a condition or birth year) over a specific period to study health outcomes or exposures.

Eligibility

Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.

Conditions

Criteria

Any sex

Biological sex of participants that are eligible to enroll.

From 16 to 100 Years

Range of ages for which participants are eligible to join.

Healthy volunteers not allowed

If individuals who are healthy and do not have the condition being studied can participate.

Conditions

Pathology

Congenital AbnormalitiesHamartomaHemic and Lymphatic DiseasesImmune System DiseasesImmunoproliferative DisordersLymphangiomyomaLymphatic DiseasesLymphoproliferative DisordersCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesNeoplasmsNeoplasms by Histologic TypeNeoplasms, Multiple PrimaryNeoplastic Syndromes, HereditaryNervous System MalformationsNervous System DiseasesPleural DiseasesRespiratory Tract DiseasesNeoplasm, Lymphatic TissueNeoplasms, Connective and Soft TissueNeurodegenerative DiseasesHeredodegenerative Disorders, Nervous SystemNeurocutaneous SyndromesGenetic Diseases, InbornMalformations of Cortical DevelopmentPerivascular Epithelioid Cell NeoplasmsMalformations of Cortical Development, Group ILung DiseasesPneumothoraxTuberous SclerosisLymphangioleiomyomatosis

Criteria

6 inclusion criteria required to participate

Findings on chest x-ray and/or chest computed axial tomography consistent with LAM

Findings on lung biopsy diagnostic of LAM

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

Show More Criteria

3 exclusion criteria prevent from participating

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

Age less than 16

Patients on continuous oxygen are excluded from the formal exercise study and the stress echocardiogram. Patients may perform an exercise test that will assess the patient's exercise capacity with activities of daily living

Study Plan

Find out more about all the medication administered in this study, their detailed description and what they involve.

Treatment Groups

Study Objectives

One single intervention group is designated in this study

This study does not include a placebo group

Treatment Groups

Study Objectives

Primary Objectives

Study Centers

These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.

This study has 1 location

Recruiting

National Institutes of Health Clinical Center

Bethesda, United StatesOpen National Institutes of Health Clinical Center in Google Maps

Recruiting

One Study Center