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Efficacy and Safety of Sirolimus in LAM

Phase 3
Completed
Conditions
Lymphangioleiomyomatosis
Interventions
Drug: Placebo
Registration Number
NCT00414648
Lead Sponsor
University of Cincinnati
Brief Summary

Lymphangioleiomyomatosis (LAM) is a rare lung disease of women that is caused by genetic mutations. It results in the uncontrolled growth of an unusual type of smooth muscle cell in the lung. These cells invade lung tissue, including the airways, blood vessels, and lymph vessels, and restrict the flow of air, blood, and lymph, respectively. Respiratory failure, lung collapse (pneumothorax), and pleural effusions (chylothorax) are hallmarks of the disease. This study will evaluate the safety and effectiveness of sirolimus, an inhibitor of the mTOR pathway, in stabilizing or improving lung function in people with LAM.

Detailed Description

LAM is an uncommon, progressive, cystic lung disease that predominantly affects young women. The disease is caused by mutations in tuberous sclerosis complex (TSC) genes, which regulate cellular pathways that control nutrient sensing, cell size, cell migration, and cell proliferation. Individuals with LAM often experience pneumothorax and chylothorax, as well progressive loss of lung function. Sirolimus is drug that was approved for the prevention of kidney transplant rejection. It directly affects the cellular pathway that causes LAM. This study will evaluate the safety and effectiveness of sirolimus in stabilizing or improving lung function in people with LAM.

Individuals interested in participating in this 2-year, double-blind study will first report to the study sites for pulmonary function testing to determine their eligibility for participation. Participants deemed eligible will be randomly assigned to receive either sirolimus or placebo for 1 year. Sirolimus or placebo will be administered in 2 tablet doses (2 mg for sirolimus) for the duration of the study. Study visits will occur at baseline, Week 3, every 3 months for 12 months, and months 18 and 24. Study visits will include a physical exam, questionnaires, a pregnancy test, blood and urine collection, and functional lung tests. A 6-minute walk test will occur at most study visits; a chest x-ray will be taken at baseline and month 24; and a volumetric computed tomography scan will occur at baseline, month 12, and month 24. Adverse events, medication side effects, and lung function will be assessed at each visit.

Recruitment & Eligibility

Status
COMPLETED
Sex
Female
Target Recruitment
89
Inclusion Criteria
  • Age 18 or older
  • Signed and dated informed consent
  • Diagnosis of LAM based on compatible chest CT scan and a) biopsy or cytology consistent with LAM, or b) presence of tuberous sclerosis, angiomyolipoma or chylous pleural effusion; or c) a VEGF-D level of at least 800 pg/ml
  • Forced expiratory volume in one second (FEV1) of 70% or less of predicted value after administration of a bronchodilator
Exclusion Criteria
  • Known allergy to sirolimus
  • History of heart attack, angina, or stroke due to clogging, narrowing, and hardening of the arteries and blood vessels
  • Significant hematologic or hepatic abnormality (transaminase levels greater than three times the upper limit of normal, HCT less than 30%, platelets less than 80,000/cubic mm, adjusted absolute neutrophil count less than 1,000/cubic mm, total white blood cell count less than 3,000/cubic mm)
  • Intercurrent infection at the time treatment with sirolimus begins
  • Any surgery involving entry into a body cavity or requiring three or more sutures within 8 weeks of initiation of study drug
  • Use of an investigational drug within the 30 days prior to random assignment
  • Uncontrolled hyperlipidemia
  • Previous lung transplant or currently on lung transplant list
  • Unable to attend scheduled study visits
  • Unable to perform pulmonary function tests
  • Creatinine levels greater than 2.5 mg/dl
  • Chylous ascites severe enough to affect diaphragmatic function
  • Pleural effusion severe enough to affect pulmonary function, as determined by the study physician
  • History of acute pneumothorax within the 2 months prior to study entry
  • History of malignancy within the 2 years prior to study entry (except for squamous or basal cell skin cancer)
  • Use of estrogen containing medication within the thirty days prior to randomization
  • Unable or unwilling to use adequate contraception
  • Pregnant, breastfeeding, or plans to become pregnant within the next 2 years

Study & Design

Study Type
INTERVENTIONAL
Study Design
PARALLEL
Arm && Interventions
GroupInterventionDescription
Placebo ArmPlaceboParticipants receive placebo daily for 1 year and followed with serial pulmonary function tests, 6-minute walk tests, and symptom and QOL questionnaires over a 2-year period.
Active Agent (Sirolimus)SirolimusParticipants receive sirolimus daily for 1 year and are followed with serial pulmonary function tests, 6-minute walk tests, and symptom and QOL questionnaires over a 2-year period.
Primary Outcome Measures
NameTimeMethod
Changes in Forced Expiratory Volume in One-second (FEV1) Slope in Milliliters Per MonthBaseline to Month 12

FEV1 values reported are in liters or milliliters. There are no definite minimum and maximum values of FEV1 as it is a physiological measure of lung function and varies from individual to individual. Normative ranges are determined in populations stratified by gender, height, age and race/ethnicity. Higher FEV1 values indicate better lung function.

Secondary Outcome Measures
NameTimeMethod
Rate of Change in Diffusing Capacity for Carbon Monoxide (DLCO) in ml/Min/mmHgBaseline to Month 12

Diffusing capacity for carbon monoxide is abbreviated DLCO. DLCO is measured in liters and milliliters. There are no definite minimum and maximum values of FEV1 as it is a physiological measure of lung function and varies from individual to individual. A lower DLCO means that there is lower lung function.

Rate of Change in Six Minute Walk Distance in Meters/MonthBaseline to Month 12

Number of meters walked in six minutes. There is no minimum or maximum number of feet walked as this varies from individual to individual. A higher number of feet walked indicates better exercise tolerance

Percent of Participants With Serious Adverse EventsBaseline to Month 12
Changes in FVC Slope in ml/MonthBaseline to Month 12

FVC values are reported in liters or milliliters. Normative ranges are determined in populations that are stratified by gender, height, age and race/ethnicity. There are no minimum or maximum values as it is a physiologic measure of lung function and varies from individual to individual. Higher FVC scores indicate better lung function.

Rate of Change in Total Lung Volume in ml Per MonthBaseline to Month 12

There are two methods for measurement of total lung volume, nitrogen or helium wash out (total lung capacity or TLC), or plethysmography (Total gas volume or TGV). TLC or TGV is measured in milliliters or liters. Normative ranges for TLC or TGV are stratified by age, height, and sex in population based studies of normal subjects.. There are no definite minimum and maximum values of lung volume as it is a physiological measure of lung function and varies from individual to individual. A low TGV or TLC is suggestive of a restrictive lung disease, and a high TGV or TLC is consistent with obstructive lung disease with hyperinflation.

Rate of Change in Serum Vascular Endothelial Growth Factor-D (VEGF-D) Levels in pg/ml Per MonthBaseline to Month 12

Serum VEGF-D is a protein produced by LAM cells that serves as a biomarker of mTOR activation and sirolimus response. Mean serum levels of VEGF-D in normal subjects are around 350 pg/ml. Higher levels of serum VEGF-D are correlated with greater degrees of mTOR activation, and a fall in VEGF-D levels suggest suppression of the mTOR axis.

Trial Locations

Locations (13)

National Kinki-Chou Hospital

🇯🇵

Sakai, Osaka, Japan

Niigata University Medical and Dental Hospital

🇯🇵

Niigata, Japan

University of Texas Health Center at Tyler

🇺🇸

Tyler, Texas, United States

Cleveland Clinic Foundation

🇺🇸

Cleveland, Ohio, United States

University of California Los Angeles

🇺🇸

Los Angeles, California, United States

National Jewish Medical and Research Center

🇺🇸

Denver, Colorado, United States

University of Florida, Gainesville

🇺🇸

Gainesville, Florida, United States

National Heart, Lung, and Blood Institute

🇺🇸

Bethesda, Maryland, United States

Harvard's Brigham and Women's Hospital

🇺🇸

Boston, Massachusetts, United States

University of Cincinnati Medical Center

🇺🇸

Cincinnati, Ohio, United States

Oregon Health & Science University

🇺🇸

Portland, Oregon, United States

Medical University of South Carolina

🇺🇸

Charleston, South Carolina, United States

Toronto General Hospital

🇨🇦

Toronto, Ontario, Canada

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