View clinical trials related to Lymphangioleiomyomatosis.
Filter by:The investigators will perform a two-center phase I trial of celecoxib (COX-2 inhibitor) administered at 200mg by mouth daily for 6 months. Up to 12 adult women with LAM will be recruited (between 4-8 at each site). The Specific Aims are: Aim 1: To investigate whether, in LAM patients, celecoxib is safe and well tolerated, and has evidence of clinical benefit. Aim 2: To investigate the potential value of a novel biomarker of LAM, quantitative measurement of the number of TSC2 mutant LAM cells per ml of blood, to assess disease severity.
The MIDAS study aims to follow male and female LAM patients who are currently taking, have previously failed or been intolerant of, or may (at some time in the future) take mTOR inhibitors (sirolimus or everolimus) as part of their clinical care. Adult female TSC patients may also enroll, with or without lung cysts.
Lymphatic anomalies are a rare subset of vascular anomalies that are poorly understood. the understanding of the natural history, long-term outcomes, risk factors for morbidity and mortality, and the relative benefit of medical therapies and procedures is limited.The goal of this project is to better understand these diseases and improve the care of theses rare patients. To do this, the investigators are conducting an observational study of patients with lymphatic anomalies, including an annual follow-up questionnaire to gather prospective data on mortality, morbidity, treatments, and functionality as well as quality of life.
Tuberous Sclerosis Complex (TSC) is a multisystemic autosomal dominant disease that is characterized by the development of benign neoplasms in brain, kidney, lung, skin and heart. TSC is caused by mutations in TSC1 and/or TSC2 genes, which encode, respectively, hamartin and tuberin, that are involved in the regulation of cell proliferation, cell cycle and protein synthesis. Most patients exhibit dermatological, renal, neurological and pulmonary (lymphangioleiomyomatosis, LAM) manifestations. Neurological involvement include subependymal nodules, subependymal giant cell astrocytomas and cortical tubers. LAM is characterized by the proliferation of LAM cells around the airways, blood vessels and lymphatics, which result in vascular and airway obstruction and cyst formation. The most frequent TSC manifestation in the kidney is the development of angiomyolipomas (AML). Dermatologic lesions represent the most common manifestations of TSC, mainly hypomelanotic macules and facial angiofibromas. The most significant functional implication of the tuberin-hamartin complex is its regulatory role upon the mammalian target of rapamycin (mTOR) pathway. Mutations in TSC1 or TSC2 lead to increased mTOR activity and favor tumor development and growth. All lesions associated with TSC, sporadic LAM and sporadic AML share a common molecular pathogenesis, based on TSC1/TSC2 mutations and mTOR hyperactivity. Up to date, TSC patients have been followed in separated medical services in our institution, according to their predominant phenotype. The current knowledge, however, suggest that the ideal follow up of such patients should be conducted in an integrated fashion among the specialties associated with the main disease manifestations. Experts in TSC from each of these areas have recently created a TSC/LAM/AML integrated program in the University of São Paulo Medical Center, and his project will be initiated with the generation of an integrated TSC/LAM/AML registry, which intends not only to clinically characterize this patient population but also to document the employed treatment modalities. Once this first goal is achieved, clinical trials are planned to be performed. The central aim of this observational study is to clinically characterize the TSC/LAM/AML subject population followed and referred to the University of São Paulo Medical Center. Specific aims: To characterize the pulmonary, the neurological, the renal and the dermatologic phenotypes of this patient population.
Lymphangioleiomyomatosis (LAM) is a rare lung disease that mostly affects women of childbearing age. In LAM, abnormal, muscle-like cells begin to grow out of control in the lungs. As a result, air can't move freely in and out of the lungs. In some cases, this means the lungs can't supply the body's other organs with enough oxygen. This study is being conducted to find out what dose of a drug called saracatinib is best tolerated by people with LAM. This drug has been tested in patients with certain types of cancer but is not currently approved by the United States Food and Drug Administration (FDA). Saracatinib may work in cancer by preventing the growth, movement and invasiveness of cancer cells. The use of saracatinib to treat LAM is considered experimental. Preliminary testing already completed suggests that the study drug, saracatinib, may suppress certain substances in the lungs of patients with LAM thus may be effective in slowing down the disease process
The purpose of this research study is to see if simvastatin can be taken safely in patients with either LAM or TSC, who are already being treated with everolimus or sirolimus. This is the first step in looking at simvastatin as a drug that may help patients, by impacting the growth and survival of cells that make up the lung lesions that cause problems in LAM and TSC patients. The study also seeks to learn more about how simvastatin works, when given to patients being treated with everolimus or sirolimus, and to evaluate the safety and any potential benefit to patients taking this 2-drug combination. The primary objective of this study is to determine the safety of simvastatin in the treatment of LAM-S or LAM-TS in patients on a stable (for at least 3 months) dose of sirolimus or everolimus. Secondary objectives include: - To assess the effect of simvastatin on forced expiratory volume in 1 second (FEV1). - To assess the effect of simvastatin on forced vital capacity (FVC). - To assess the effect of simvastatin on diffusing lung capacity (DLCO). - To assess the effect of simvastatin on vascular endothelial growth factor -D (VEGF-D) serum levels. - To assess the effect of simvastatin with questionnaire- based assessments of dyspnea, fatigue, and quality of life (QOL). - Assess signs of clinical benefit.
Lymphangioleiomyomatosis (LAM) is a rare disease in which reduced exercise capacity is frequently present. The mechanisms applied are airflow obstruction, abnormal diffusion capacity and dynamic hyperinflation (DH). Pulmonary rehabilitation (PR) has proved benefit in improving exercise tolerance, dyspnea, and quality of life in chronic obstructive pulmonary disease. There are no studies evaluating the impact of PR in patients with LAM. The hypothesis under study is that PR determine improvement in exercise capacity, dyspnea, quality of life, muscle force, functional limitation and DH in these patients.
Background: - Lymphangioleiomyomatosis (LAM) is a rare type of lung disease that occurs almost exclusively in women. In LAM, muscle tissue grows in the lungs and starts to block the flow of air. It is a progressive disease, and in severe cases may require a lung transplant. One possible treatment to improve breathing in people with LAM is inhaled albuterol. Albuterol can be given in a metered dose inhaler (MDI) or with a nebulizer. Researchers want to compare these methods to see which method best improves lung function in women with LAM. Objectives: - To see whether a nebulizer or MDI can better improve lung function in women with LAM. Eligibility: - Women at least 18 years of age who have impaired lung function because of LAM. Design: - Participants will be screened with a physical exam and medical history. No lab tests will be needed for this study. - Participants will have a 3-day overnight stay at the National Institutes of Health. Those who are using long-acting inhalers will have to stop taking these drugs 1 week before the study. - Participants will receive either the nebulizer or two or four puffs of the inhaler. Four puffs of albuterol is a higher dose than is normally prescribed, and is being tested on this study. - Participants will have each treatment around the same time of day on each of the 3 days. Before and after taking the albuterol, participants will have lung function tests.
Specific Aim 1: To investigate whether, in Lymphangioleiomyomatosis (LAM) patients, the combination of sirolimus and hydroxychloroquine is safe and well tolerated Specific Aim 2: To investigate whether, in LAM patients, 6 months of combination therapy with sirolimus and hydroxychloroquine results in improvement of indicators of disease, and whether the gains are sustained after stopping therapy. Specific Aim 3: To investigate the potential role of a LAM-specific peripheral blood signature to predict rates of disease progression and determine responsiveness to combination therapy. This will be a phase I dose escalation study of the combination of sirolimus (2 mg adjusted to keep trough levels between 5-15 ng/ml) and hydroxychloroquine (200 mg or 400 mg) taken orally daily. Up to 18 adult women with LAM will be enrolled.
This phase I trial studies the side effects and best dose of bevacizumab and temsirolimus alone or in combination with valproic acid or cetuximab in treating patients with a malignancy that has spread to other places in the body or other disease that is not cancerous. Immunotherapy with bevacizumab and cetuximab, may induce changes in body's immune system and may interfere with the ability of tumor cells to grow and spread. Temsirolimus may stop the growth of tumor cells by blocking some of the enzymes needed for cell growth. Drugs used in chemotherapy, such as valproic acid, work in different ways to stop the growth of tumor cells, either by killing the cells, by stopping them from dividing, or by stopping them from spreading. It is not yet known whether bevacizumab and temsirolimus work better when given alone or with valproic acid or cetuximab in treating patients with a malignancy or other disease that is not cancerous.