Lung DiseaseNCT00001465
Study of the Disease Process of Lymphangioleiomyomatosis
An observational study of Lung Disease and Pneumothorax, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 16 to 100 years
- Conditions the study is for
- Lung Disease, Pneumothorax, Tuberous Sclerosis
- What is being tested?
- Toshibia Aquilion One CT
- Type of treatment
- Medical device
- How many people
- 2,000 participants
- Where
- 1 siteUnited States
- Study dates
- 18 Dec 1995to not given
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 16 to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with pulmonary lymphangioleiomyomatosis develop severe destructive lung disease. Most of them are females of childbearing age. 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.
Who may be able to join
- 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.
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- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: Characterization of the Pathogenesis of Lymphangioleiomyomatosis (LAM)
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.
Read the detailed description
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.
- Being tested
- Toshibia Aquilion One CT
- Keywords
- Smooth Muscle Proliferation, Bronchoscopy, Female, Pneumothorax, Tuberous Sclerosis, Natural History
- Medical subject headings
- Lung Diseases, Pneumothorax, Tuberous Sclerosis, Lymphangioleiomyomatosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Toshibia Aquilion One CTDevice
The Toshiba Aquilion ONE CT system is currently being used for studies in both general CT radiology and CT cardiac imaging. One of the unique aspects of the Aquilion ONE CT system is its ability to acquire whole organ volume images in a single rotation by utilizing an x-ray detector that is configured as 320 detector rows with a 0.5 mm width, providing a z-axis coverage of 16 cm of anatomy. In line with the evolutionary changes to CT systems, the Aquilion ONE will be upgraded with new technology that will expand its capabilities. The changes being made to the Aquilion ONE will provide enhancements to image acquisition capabilities, reduce ionizing radiation dose, and improve subject access to the system. All of these features assist in enhancing the safety of the currently installed Aquilion ONE CT system.
| Study group | Role | What they receive |
|---|---|---|
| LAM | Patients with tissue diagnosis of LAM may be admitted for evaluation every six months, or as deemed necessary for research Receives: Device: Toshibia Aquilion One CT |
What is being measured
The primary outcome is the main question the study is designed to answer.
Define the clinical course of the disease LAM andelucidate the pathogenesis of LAM at cellular and molecular levels
To define the molecular basis of the remarkable proliferation of immature appearing smooth muscle cells, which is the cause of many of the clinical manifestations, and perhaps thereby to improve our understanding of the mechanism of smooth muscle cell proliferation in other diseases, e.g., interstitial lung diseases, asthma, atherosclerosis, hypertension, and post-angioplastic coronary restenosis. To assess the contribution of proteins and genetic factors to cyst formation, airway obstruction, and clinical course. To evaluate the role of TSC genes in the pathogenesis of LAM.
Measured: on going
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Nov 1999 (estimated)
- Study start18 Dec 1995
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Lung DiseaseStudies of the same condition, open and under way.
- More trials run by National Heart, Lung, and Blood Institute (NHLBI)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 2,000 participants (estimated)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Joel Moss, M.D., Principal investigator, National Heart, Lung, and Blood Institute (NHLBI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00001465
- Sponsor's protocol ID
- 950186
- Other IDs
- 95-H-0186
- Status last verified
- 17 Aug 2026
- First submitted
- 3 Nov 1999
- Last updated
- 5 Nov 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Matthew BP, Lebron A, Chen YC, Lohr WH, Rollison SF, Worthy TA, Jones AM, Julien-Williams P, Pirooznia M, Chen MY, Moss J, Wen H. Novel Pulmonary Cyst Characteristics Associated with the Diffusing Capacity of the Lung in Lymphangioleiomyomatosis: A Cross-Sectional Clinical Trial. Ann Am Thorac Soc. 2023 Jul;20(7):1073-1076. doi: 10.1513/AnnalsATS.202212-1003RL. No abstract available.
PubMed 36930738Matthew BP, Hasani AM, Chen YC, Pirooznia M, Stylianou M, Rollison SF, Machado TR, Quade NM, Jones AM, Julien-Williams P, Taveira-DaSilva A, Chen MY, Moss J, Wen H. Ultra-Small Lung Cysts Impair Diffusion Without Obstructing Air Flow in Lymphangioleiomyomatosis. Chest. 2021 Jul;160(1):199-208. doi: 10.1016/j.chest.2021.01.077. Epub 2021 Feb 5.
PubMed 33549601Hu-Wang E, Schuzer JL, Rollison S, Leifer ES, Steveson C, Gopalakrishnan V, Yao J, Machado T, Jones AM, Julien-Williams P, Moss J, Chen MY. Chest CT Scan at Radiation Dose of a Posteroanterior and Lateral Chest Radiograph Series: A Proof of Principle in Lymphangioleiomyomatosis. Chest. 2019 Mar;155(3):528-533. doi: 10.1016/j.chest.2018.09.007. Epub 2018 Oct 3.
PubMed 30291925
Study at a glance
From the registry record, last updated by the sponsor on 5 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterization of the Pathogenesis of Lymphangioleiomyomatosis (LAM)
- ClinicalTrials.gov ID
- NCT00001465
- Acronym / sponsor ID
- 950186
- Keywords
- Smooth Muscle Proliferation, Bronchoscopy, Female, Pneumothorax, Tuberous Sclerosis, Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 2,000 participants (estimated)
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)US National Institutes of Health
- Study start
- 18 Dec 1995 (actual)
- First posted
- 4 Nov 1999 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| LAM | – | Device: Toshibia Aquilion One CTPatients with tissue diagnosis of LAM may be admitted for evaluation every six months, or as deemed necessary for research |
Who may qualify
- Ages
- 16 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with pulmonary lymphangioleiomyomatosis develop severe destructive lung disease. Most of them are females of childbearing age. 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.
Key inclusion criteria (10 listed)
- 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.
Key exclusion criteria (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Toshibia Aquilion One CTThe Toshiba Aquilion ONE CT system is currently being used for studies in both general CT radiology and CT cardiac imaging. One of the unique aspects of the Aquilion ONE CT system is its ability to acquire whole organ volume images in a single rotation by utilizing an x-ray detector that is configured as 320 detector rows with a 0.5 mm width, providing a z-axis coverage of 16 cm of anatomy. In line with the evolutionary changes to CT systems, the Aquilion ONE will be upgraded with new technology that will expand its capabilities. The changes being made to the Aquilion ONE will provide enhancements to image acquisition capabilities, reduce ionizing radiation dose, and improve subject access to the system. All of these features assist in enhancing the safety of the currently installed Aquilion ONE CT system. | Device | LAM |
Primary outcome
Define the clinical course of the disease LAM andelucidate the pathogenesis of LAM at cellular and molecular levels
Time frame: on going
To define the molecular basis of the remarkable proliferation of immature appearing smooth muscle cells, which is the cause of many of the clinical manifestations, and perhaps thereby to improve our understanding of the mechanism of smooth muscle cell proliferation in other diseases, e.g., interstitial lung diseases, asthma, atherosclerosis, hypertension, and post-angioplastic coronary restenosis. To assess the contribution of proteins and genetic factors to cyst formation, airway obstruction, and clinical course. To evaluate the role of TSC genes in the pathogenesis of LAM.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Nov 2026.
- Derived from this study: PubMed 36930738Matthew BP, Lebron A, Chen YC, Lohr WH, Rollison SF, Worthy TA, Jones AM, Julien-Williams P, Pirooznia M, Chen MY, Moss J, Wen H. Novel Pulmonary Cyst Characteristics Associated with the Diffusing Capacity of the Lung in Lymphangioleiomyomatosis: A Cross-Sectional Clinical Trial. Ann Am Thorac Soc. 2023 Jul;20(7):1073-1076. doi: 10.1513/AnnalsATS.202212-1003RL. No abstract available.
- Derived from this study: PubMed 33549601Matthew BP, Hasani AM, Chen YC, Pirooznia M, Stylianou M, Rollison SF, Machado TR, Quade NM, Jones AM, Julien-Williams P, Taveira-DaSilva A, Chen MY, Moss J, Wen H. Ultra-Small Lung Cysts Impair Diffusion Without Obstructing Air Flow in Lymphangioleiomyomatosis. Chest. 2021 Jul;160(1):199-208. doi: 10.1016/j.chest.2021.01.077. Epub 2021 Feb 5.
- Derived from this study: PubMed 30291925Hu-Wang E, Schuzer JL, Rollison S, Leifer ES, Steveson C, Gopalakrishnan V, Yao J, Machado T, Jones AM, Julien-Williams P, Moss J, Chen MY. Chest CT Scan at Radiation Dose of a Posteroanterior and Lateral Chest Radiograph Series: A Proof of Principle in Lymphangioleiomyomatosis. Chest. 2019 Mar;155(3):528-533. doi: 10.1016/j.chest.2018.09.007. Epub 2018 Oct 3.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Joel Moss, M.D. principal investigator
National Heart, Lung, and Blood Institute (NHLBI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Lung Disease and Pneumothorax, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 10 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 5 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Tatyana A Worthy, R.N. ((301) 827-1376, worthyt@mail.nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Define the clinical course of the disease LAM andelucidate the pathogenesis of LAM at cellular and molecular levels (time frame: on going). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00001465, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Nov 2026.