Discovery of Sirolimus Sensitive Biomarkers in Blood

Study Purpose

Background: Lymphangioleiomyomatosis (LAM) is a rare, progressive disease. It usually affects women in the prime of their lives. It typically results in lung destruction. Studies have shown that a drug called sirolimus stabilizes lung function in people with LAM. But researchers do not know what drug dose and blood serum levels are needed to reach this stability. Researchers want to learn more about the right dose of sirolimus for people with LAM. Objective: To determine if blood and urine markers after 1 dose and again after 9 months can be used to evaluate the correct dose of sirolimus for people with LAM. Eligibility: Women ages 18-90 with LAM whose doctors have decided they should start taking sirolimus to treat it. Design: At visit 1, participants will take their first dose of sirolimus by mouth at the clinic. They will have blood and urine collected. Participants will take 1 tablet of the study drug each day. Visit 2 will be 3 months after visit 1. Participants will have blood and urine collected. Visit 3 will be 9 months after visit 1. Participants will have blood and urine collected. Participant samples will be stored in a secure place. No personal data will be connected to them.

Recruitment Criteria

Accepts Healthy Volunteers

Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms

Study Type

An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes.

An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes.

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Eligible Ages 18 Years - 90 Years
Gender Female
More Inclusion & Exclusion Criteria

  • - Female 18 to 90 years of age.
  • - Diagnosis of LAM.
  • - Initiation of sirolimus therapy (2mg daily) based on standard-of-care pulmonary indications and the advice of the patient s local physician.
  • - Unable to travel to the NIH.
  • - Unable to provide informed consent.
  • - 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.
- Women who are pregnant or lactating

Trial Details

Trial ID:

This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.


Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans.

Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data.

Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs.

Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.

Phase 2
Lead Sponsor

The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.

National Heart, Lung, and Blood Institute (NHLBI)
Principal Investigator

The person who is responsible for the scientific and technical direction of the entire clinical study.

Joel Moss, M.D.
Principal Investigator Affiliation National Heart, Lung, and Blood Institute (NHLBI)
Agency Class

Category of organization(s) involved as sponsor (and collaborator) supporting the trial.

Overall Status Recruiting
Countries United States

The disease, disorder, syndrome, illness, or injury that is being studied.

Study Website: View Trial Website
Additional Details

Sirolimus (rapamycin), which acts as a targeted inhibitor of the protein mechanistic target of rapamycin (mTOR), has been shown to be effective in patients with lymphangioleiomyomatosis (LAM). It stabilizes lung function, resolves chylous effusions and lymphangioleiomas and shrinks angiomyolipomas. The current study is to understand better the short-term action of the drug by following the effects on potential biomarkers in blood and urine. Patients with LAM will have samples taken prior to administration of first dose of the drug, at 1 hr and then at 23 hours after the drug (trough level). At 3 and 9 months, samples will be obtained at trough and 1 hour after the dose. Molecular and cellular analyses will be performed to look for potential biomarkers.

Arms & Interventions


Other: Treatment with sirolimus

Lymphangioleiomyomatosis (LAM) is a cystic lung disease characterized by proliferation of cells with mutations in the tuberous sclerosis complex (TSC) which leads to activation of the mTORC pathway.


Drug: - Sirolimus 2mg

Patients with LAM, whose treating physicians have decided that they need to start treatment with sirolimus will be referred to the NIH Clinical Center for these studies.

Contact a Trial Team

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Bethesda, Maryland




National Institutes of Health Clinical Center

Bethesda, Maryland, 20892

Site Contact

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

[email protected]

800-411-1222 #TTY8664111010

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