Who may be eligible for the Study of the Disease Process of Lymphangioleiomyomatosis trial?

* 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. Pregnant and or nursing women including pregnant minors may be included in accordance with Federal Regulations at Subpart B of 45 CFR 46. Subjects who are pregnant and or nursing will be excluded from procedures during their pregnancy that are greater than minimal risk, until they are no longer pregnant and/or nursing. A minor participant with a positive pregnancy test result will be informed promptly. The result will be discussed in a sensitive and developmentally appropriate manner with the minor, including explanation of the result, assessment of safety, and referral for appropriate follow-up care. The participant will be informed of the limits of confidentiality. The study team will encourage involvement of a parent or legal guardian when appropriate and safe. If there is concern for abuse, coercion, exploitation, or danger, the study team will follow applicable mandatory reporting laws and institutional policies, including notification of appropriate authorities and/or a parent or guardian when required to protect the participant or as otherwise required. Procedures that will not be completed while the subject is pregnant and/or nursing include: Arterial Blood Gases (ABG), HIV testing, treadmill test, lung biopsy, thoracentesis, bronchoscopy, and measurements with imaging modalities requiring contrast or with radiation exposure such as Chest x-ray, CT scan, MRI with or without contrast, lung scan, bone densitometry (DEXA). Allowing subjects to be included in the study may glean important information about individuals with uncommon pulmonary disease during and post pregnancy. Rationale for inclusion of children (16 to \< 18 years of age): LAM is a rare progressive disease that can manifest during adolescence, particularly in individuals with TSCassociated disease. Participation is expected to provide clinically meaningful evaluation and/or contribute important information about the natural history and presentation of LAM in younger patients. At age 16, the participant is generally capable of providing meaningful consent, understanding study procedures, and participating in discussions about risks, burdens, and potential benefits. EXCLUSION CRITERIA: Exclusion criteria for patients include: Age less than 16. 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. Exclusion criteria for patients for the formal exercise study and the stress echocardiogram include patients on continuous oxygen. Patients may perform an exercise test that will assess the patient's exercise capacity with activities of daily living.

ClinicalTrials.gov record NCT00001465

Study of the Disease Process of Lymphangioleiomyomatosis

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 28, 2026

Characterization of the Pathogenesis of Lymphangioleiomyomatosis (LAM)

About this page. This page shows the study's official ClinicalTrials.gov record ↗, with added help to make it easier to understand. We explain medical terms, highlight key details in plain language, and suggest questions you may want to ask the study team.

The record is periodically copied from ClinicalTrials.gov and may lag behind changes. AI summaries are checked by software, not a clinician.Read moreShow less

The official record is written by the study sponsor and published on ClinicalTrials.gov. It may not always reflect the latest changes. Before making any decisions, please confirm important information with the study team and your own healthcare team.

Where you see "AI summary", AI was used to create a plain-language explanation and software checked it against the source. It has not been reviewed by a clinician, so it may contain mistakes or leave out important details.

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.

Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.

Age16 years old to 100 years old

SexAll

LocationUnited States

AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This prospective observational study follows people with lymphangioleiomyomatosis (LAM) and related lung conditions, including tuberous sclerosis, to define the clinical course. Researchers will collect clinical information, imaging, and molecular data to study the cells, genes, and proteins involved in lung damage. The goal is to better understand how LAM develops at the cellular and molecular level.

What it is studying. The study is testing which cellular, genetic, and protein changes are associated with lung destruction in LAM and aims to define the clinical course of the disease over time.

What the researchers hope to learn. Scientific goals are to define the molecular basis of abnormal smooth muscle cell proliferation in LAM; assess how proteins and genetic factors contribute to cyst formation, airway obstruction, and clinical course; and evaluate the role of TSC genes in LAM pathogenesis.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

Pulmonary lymphangioleiomyomatosis (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. 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 intend to identify the proteins and genes that contribute to the process of lung destruction in affected individuals. ...

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Device: Toshibia Aquilion One CT

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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.
Pregnant and or nursing women including pregnant minors may be included in accordance with Federal Regulations at Subpart B of 45 CFR 46. Subjects who are pregnant and or nursing will be excluded from procedures during their pregnancy that are greater than minimal risk, until they are no longer pregnant and/or nursing. A minor participant with a positive pregnancy test result will be informed promptly. The result will be discussed in a sensitive and developmentally appropriate manner with the minor, including explanation of the result, assessment of safety, and referral for appropriate follow-up care. The participant will be informed of the limits of confidentiality. The study team will encourage involvement of a parent or legal guardian when appropriate and safe. If there is concern for abuse, coercion, exploitation, or danger, the study team will follow applicable mandatory reporting laws and institutional policies, including notification of appropriate authorities and/or a parent or guardian when required to protect the participant or as otherwise required.
Procedures that will not be completed while the subject is pregnant and/or nursing include: Arterial Blood Gases (ABG), HIV testing, treadmill test, lung biopsy, thoracentesis, bronchoscopy, and measurements with imaging modalities requiring contrast or with radiation exposure such as Chest x-ray, CT scan, MRI with or without contrast, lung scan, bone densitometry (DEXA). Allowing subjects to be included in the study may glean important information about individuals with uncommon pulmonary disease during and post pregnancy.
Rationale for inclusion of children (16 to < 18 years of age):
LAM is a rare progressive disease that can manifest during adolescence, particularly in individuals with TSCassociated disease. Participation is expected to provide clinically meaningful evaluation and/or contribute important information about the natural history and presentation of LAM in younger patients. At age 16, the participant is generally capable of providing meaningful consent, understanding study procedures, and participating in discussions about risks, burdens, and potential benefits.

Exclusion criteria

Exclusion criteria for patients include:
Age less than 16.
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.
Exclusion criteria for patients for the formal exercise study and the stress echocardiogram include patients on continuous oxygen. Patients may perform an exercise test that will assess the patient's exercise capacity with activities of daily living.

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

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.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants will have regular clinical evaluations; patients with tissue-diagnosed LAM may be admitted for evaluation every six months or as needed for research. Evaluations can include lung function tests, exercise testing or a stress echocardiogram, imaging (chest x-ray, CT, MRI), and bone density (DEXA). Some procedures are invasive or more burdensome, for example bronchoscopy and thoracentesis. Researchers will study cells and molecules to identify proteins and genes involved in LAM; pregnant or nursing participants will not undergo procedures during pregnancy that the record describes as greater than minimal risk. These include arterial blood gases (ABG), HIV testing, treadmill testing, lung biopsy, thoracentesis, bronchoscopy, and imaging involving radiation or contrast, including chest x-ray, CT, MRI, lung scans, and DEXA bone-density scans.

How the study is structured. A prospective observational cohort study: participants with LAM are followed over time while researchers collect clinical information, imaging (including CT using the Toshiba Aquilion ONE), and biological data for molecular and genetic analysis.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
Which of the eligibility criteria would need to be checked with tests before I could join?

More on lymphangioleiomyomatosis

This trial is also listed on this site under tuberous sclerosis complex.

Clinical trials10 trials listed for lymphangioleiomyomatosisEvery trial the registry lists for lymphangioleiomyomatosis, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in lymphangioleiomyomatosis researchLatest monthly update: September 2026. Includes: Pleural fluid drainage. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start: Dec 18, 1995
Target enrollment: 2000 participants (estimated)
Last updated on registry: Oct 8, 2026
Data verified: Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor: National Heart, Lung, and Blood Institute (NHLBI)

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Tatyana A Worthy, R.N. 📞 (301) 827-1376 ✉ worthyt@mail.nih.gov
Joel Moss, M.D. 📞 (301) 496-1597 ✉ mossj@nhlbi.nih.gov

Participating sites (1)

National Institutes of Health Clinical CenterRecruiting
Bethesda, Maryland, 20892 · United States

Terms used on this page · explanations by MedicalUpdates.ai

biopsy: Removal of a small piece of tissue so it can be examined under a microscope. 'Biopsy-proven' or 'histologically confirmed' means the diagnosis was confirmed by examining tissue under a microscope.
control group: The group the study treatment is compared with. It may receive a placebo, an existing treatment (active comparator), a sham procedure, or no intervention.
follow-up: The period after treatment or enrolment during which participants are observed or contacted, for example to record side effects or outcomes.
legal guardian: A person who is legally allowed to make decisions, including consent to research, on behalf of someone who cannot consent for themselves.
CT scan: An X-ray scan that builds detailed cross-section images of the body. 'High-resolution' CT (HRCT) is used to look closely at the lungs.
MRI: A scan that uses magnets and radio waves, not X-rays, to make detailed pictures of the inside of the body. Some implants and metal objects mean a person cannot have one.
natural history: A study that follows how a condition changes over time without assigning an experimental treatment. It may involve study visits and tests, and is often used to plan future trials.
Exclusion criteria: The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
contraindication: A reason a particular test or treatment should not be used for a person, for example a metal implant that rules out an MRI scan.
echocardiogram: An ultrasound scan of the heart. A transesophageal echocardiogram is done through a probe passed into the food pipe for a closer view.
INCLUSION CRITERIA: The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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