How do I learn more about current open studies?
Below you will find a list of current studies. Clicking on the link will take you to the study summary, which will provide you with all the important details for each study.
How do I participate in a study?
Each study summary provides a list of hospitals or clinics where the study is being run. Using the contact information provided, you may contact any of these facilities in order to request participation in a study.
Lymphangioleiomyomatosis (LAM) is an ongoing lung disease causing cysts that affects 30-40% of women with tuberous sclerosis complex (TSC), and about 4-7 women per million in the population at large who do not inherit a genetic disease. Patients with LAM lose the use of their lungs rather quickly.
The average age for diagnosis of LAM is 35 years. Within 10 years of a women having her first symptom, 55% of patients are breathless when walking on flat ground, 20% require supplemental oxygen and 10% are deceased. Recent data suggests the average survival time once symptoms begin to be 15-30 years.
Studies of patients with non-inherited LAM and of those patients who are re-diagnosed with LAM after lung transplant have shown uncontrolled growth of muscle cells in the lungs. A relationship between LAM and the tuberous sclerosis genes have been found. These genes cause irregular cell growth and release of lymphangiogenic growth hormone into the body.
A previous study (MILES) showed an increase in lung function for those patients who were taking sirolimus. Lung function was determined by pulmonary function testing, which measures how well a person moves air into and out of their lungs. When sirolimus was ended, patients' lung function began to deteriorate again. The MILES study showed that sirolimus stabilized lung function and improved quality of life for LAM patients.
The research questions are:
The purpose of this study is to create a registry database of patients diagnosed with LAM who are taking or planning to take sirolimus or everolimus. From this database researchers will be able to collect and analyze data to determine if long-term sirolimus or everolimus use is helpful and safe for LAM patients.
There will be a total of 300 participants with LAM in this study.
Subjects that agree to be in the study will be asked to participate in the following:
To be eligible to participate, you must be:
You are not eligible to participate if:
We greatly appreciate your interest in this study and in helping us understand the long-term treatment of LAM with sirolimus or everolimus.
In order to participate, you must personally contact the study coordinator of any of the participating institutions by phone or by email. Please use the information below to inquire about participation:
Susan Jacobs, RN, MS
Stanford University Medical Center
Shannon Kennedy, CCRP
Lead Certified Clinical Research Coordinator
Mayo Clinic - Jacksonville
Shefali Bagwe, MBBS
Clinical Research Coordinator
Brigham and Women's Hospital - Harvard Medical School
Catherine Meldrum, PhD, RN, MS, CCRC
Univeristy of Michigan
Washington University School of Medicine
University of Rochester Medical Center
Joanne Baran, RN
Cleveland Clinic Foundation
Tammy Roads, CCRC
Research Associate, Clinical Trials Manager
University of Cincinnati
Samantha Ruimy, MS
Oregon Health & Science University
University of Pennsylvania Medical Center
Vanderbilt University Medical Center
Tiffany Ostovar-Kermani, MD, MPH
The University of Texas Health Science Center at Houston
Adetoun Sodimu, MPH, CPH
Clinical Research Manager
University of Texas Souhtwestern Medical Center
Silvia Smith, Ph.D
University of Utah School of Medicine
Research Coordinator Lead
Swedish Medical Center
Join the RDCRN Contact Registry!
Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.
Individuals with some types of Hermansky-Pudlak Syndrome (HPS) can develop breathing problems and scarring in the lung (called pulmonary fibrosis). The purpose of this study is to learn more about how people with HPS get pulmonary fibrosis over time, in order to find the earliest signs of lung disease. This study is a longitudinal study which is a research study in which the same subjects are watched repeatedly over a period of time (years). In this study, we will look at symptoms, pulmonary function tests, blood and urine tests, and chest CT scans in individuals with HPS.
This is a longitudinal study of up to 150 individuals with Hermansky-Pudlak Syndrome. Those participating in this study will complete questionnaires (surveys) every 12 months. Some individuals will take pulmonary function tests (PFTs), blood and urine tests, and/or chest CT scans every 2-3 years, depending on their age and type of HPS. PFTs and chest CT scans will take place at one of the Rare Lung Disease Consortium clinical sites (locations) (see the list of participating sites below). Questionnaires can be completed by mail, using the computer, or by other communication. Blood and urine tests can be done by the participant’s local doctor.
For each visit, you will be asked to:
Depending on your age and type of HPS, you may be asked to do the following tests every 2-3 years (2 times total):
We will look at your medical records from your doctor’s office so that we can get information about your medical history.
To be eligible to participate, you must:
In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.
Columbia University Medical Center, New York
Vanderbilt University, Nashville
Lisa Young, MD
*Participating clinical sites will be added as each site is activated for a specific protocol
The PURPOSE of this study is assemble a group of people with pulmonary alveolar proteinosis (PAP) large enough to accelerate research to improve our understanding, diagnosis, and treatment of PAP.
The REASON for doing the study is that medical progress for PAP is hampered by how infrequently it occurs. About 2000 – 3000 people in the United States have PAP and most doctors have either never seen anyone with PAP or only a few cases in their lifetime. Collecting medical information from many people with PAP in a registry will provide enough information to overcome this barrier to advancement.
Some USEFUL FACTS about PAP include:
Some QUESTIONS this study will address are:
This is a cross-sectional study of individuals with Pulmonary Alveolar Proteinosis (PAP) to create the National PAP Registry. A cross-sectional study involves collecting data from PAP patients at one specific time point. We plan to enroll 500 individuals over a 5 year period. Participants will be asked to answer questions about their health and provide a blood sample. We will test your blood and give you the results. With your permission, we will also give the results to your doctor. You will not receive any drug or treatment. The testing is free of charge because the National Institutes of Health (NIH) is providing money for this study. We will look at your medical records from your local doctor’s office so that we can collect information about your medical history. Educational information may be included on the Rare Diseases Clinical Research Network Rare Lung Diseases Consortium website and the PAP Foundation website. Information may include, but is not limited to, updates on PAP research, updates on upcoming studies, progress of current trials, and PAP related events, such as education days and patient/doctor meetings. Further, PAP patients may choose to have their contact information shared with the PAP Foundation. The PAP Foundation may provide patients and their families with newsletters and updates about PAP. These newsletters and updates may include, but are not limited to, updates on PAP research, updates on upcoming trials, progress of current trials, and PAP related events, such as education days and patient/doctor meetings.
You are eligible to participate, if:
Cincinnati Children’s Hospital Medical Center
Contact Name: Brenna Carey
Phone: (513) 636-8916
Toll Free Phone Number: (844) 843-8772 (Administrative assistant, Bettie Durant)
The PURPOSE of this study is to learn if inhaled sargramostim (Leukine®) is safe for the treatment of the lung disease autoimmune pulmonary alveolar proteinosis (aPAP).
The REASON for doing the study is that no FDA-approved pharmacologic therapy is available for autoimmunePAP. Preliminary clinical trials of inhaled sargramostim in autoimmune PAP patients show promising results, 62%-96% therapeutic response rate at two doses (250 and 500 mcg/day) without any identified safety concerns. At least 73 people with autoimmune PAP have been reported to have received inhaled sargramostim with no identified drug-related adverse effects. The effects on the lung the pharmacokinetics, pharmacodynamics, optimal dose, and treatment duration needed to maximize efficacy remain unknown.
This is a pilot, open-label, single-dose interventional study of inhaled sargramostim in individuals with autoimmune PAP. We plan to enroll 10 individuals over a 1-year period. Eligible participants will have questionnaires, blood tests and pulmonary function testing, exercise testing and a bronchoscopy with lavage before they receive one dose of inhaled sargramostim (Leukine®) with a nebulizer, similar to a breathing treatment. They will then be admitted to the hospital for an overnight stay and for observation with blood tests and urine tests performed every few hours. The next day the questionnaires, pulmonary function tests, exercise testing, and bronchoscopy with lavage will be repeated before they go home from the hospital. After a month, they will have a phone call with study staff to see how they are doing.
Cincinnati Children’s Hospital Medical Center
Contact Name: Colleen Fitzpatrick
Phone: (513) 636-7036
University of California Los Angeles
Contact Name: Jamal Sharif
Phone: (310) 825-5316
The PURPOSE of this study is to assemble a group of CT images previously collected for other research or clinical purposes from people with rare lung diseases or normal lungs to begin to develop better diagnostic criteria for rare lung disorders in the future.
The REASON for doing the study is that medical progress for rare lung diseases is hampered by how infrequently these diseases occur. Most of these diseases occur in only 1000 – 3000 people in the United States. Most doctors have either never seen anyone with rare lung diseases or only a few cases in their lifetime. Collecting medical imaging information from many people with rare lung diseases will provide enough information to overcome this barrier to advancement.
Some USEFUL FACTS about the rare lung diseases we will study include:
This is a retrospective review study of imaging from patients with rare lung diseases. We plan to review images from up to 200 patients with rare lung disease and up to 50 patients with normal lungs.
We will be looking at this type of CT images:
There is no open enrollment for this study. The study investigators will select previously collected images for review from images acquired from participants who have already provided informed consent previously for research review of their images.
Jason Woods, PhD
Cincinnati Children’s Hospital Medical Center
Adminsitrative assistant: 513-636-9976 (Sonya Harbin)
Administration of stable inert gases (special gases that are very stable) for a variety of medical purposes has occurred for approximately 40 years, such as nuclear medicine scans and anesthetic uses. The process of making inert gases (xenon, in this study) with a signal high enough to be seen on MRI is a new process that allows images of lung ventilation to be produced without any radiation. This allows for better understanding of regional lung defects, disease progression and assessment of therapeutic response. Additionally, this gas MRI can be utilized for many diseases and patients, from pediatrics to older adults and has the benefit of having no ionizing radiation as is present with clinical CT scans.
This Xenon study is a currently approved un-blinded, open-label pilot study conducted by a single site (Cincinnati Children’s Hospital Medical Center). The PURPOSE of the study is to evaluate the usefulness of hyperpolarized Xenon gas MRI for regional assessment of pulmonary function in individuals with rare lung diseases, such as lymphangioleiomyomatosis (LAM), pulmonary alveolar microlithiasis (PAM), pulmonary alveolar proteinosis (PAP) and Hermansky-Pudlak syndrome.
The objectives of this research are:
This is a cross-sectional study of individuals with rare pulmonary diseases such as LAM, PAM, PAP and Hermansky-Pudlak syndrome to provide insight and valuable information for shaping the future of MRI with hyperpolarized gases in the role of identifying and characterizing lung defects. This study within the Rare Diseases Clinical Research Network includes screening, imaging and follow up for approximately 28 participants with a rare lung disease. Participants will be screened via phone prior to their enrollment. Participants will come to the research site for a single visit for study activities, including MRI imaging. There will be two follow up phone calls at Days 1 and 30 after the study visit.
At screening, participants will be asked to answer questions about their medical history, medications, MRI safety and criteria for participation in the study. Upon arrival for the study visit, MRI safety and medical history will be confirmed. Pulmonary function testing, including spirometry, will be performed along with a modified physical exam and vital signs. The participant’s Total Lung Capacity will be calculated and used to verify the dose of hyperpolarized Xenon. This dose will be utilized during the MRI portion of the study, which will consist of up to 5 Xenon MRI scans (including a calibration scan). Participants will be asked to inhale the hyperpolarized Xenon gas and hold their breath for up to 16 seconds while MRI imaging is acquired. Additionally, normal chest MRIs and UTE chest MRIs (no gas inhalation) may be performed. Participant heart rate and SpO2 will be measured throughout imaging. Follow up with the participant will be done after the procedure (on Day 1 and Day 30).
You are not eligible to participate if you have:
Cincinnati Children’s Hospital Medical Center
Lymphangioleiomyomatosis (LAM) is an ongoing lung disease causing cysts that affects approximately 30% of women with tuberous sclerosis complex (TSC), and about 5 women per million in the population at large. Patients with LAM lose the use of their lungs rather quickly.
A previous study (MILES) showed that sirolimus stabilized lung function in patients with moderate and severe disease.
The purpose of this research study is to determine if sirolimus delays disease progression in asymptomatic patients with early LAM. Patients will be randomized to receive low-dose sirolimus or placebo, and will be followed every 4 months for 2 years. The benefits and risks of the trial, including privacy issues, will be explained and the consent form will be presented at the first study visit.
A total of approximately 60 people across the country will take part in this study.
Subjects that agree to be in the study will be asked to:
We greatly appreciate your interest in this study.
Tammy Roads, CCRP
University of Cincinnati
The PURPOSE of this study is to gather information relevant to safety of air travel among patients with diffuse cystic lung disease, especially pertaining to the risk of pneumothorax (collapsed lung) associated with air travel. We will collect this information from patients with Birt-Hogg-Dubé syndrome (BHD), and Pulmonary Langerhans Cell Histiocytosis (PLCH). In addition, this study will be used to further characterize clinical aspects of these diseases and establish a contact registry for patients to participate in future trials.
The REASON for conducting this study is that medical progress for BHD and PLCH has been held up by the rareness of these diseases. About 2000 – 3000 people in the United States have PLCH, and an even smaller number have BHD; most doctors have either never seen patients with these diseases or have seen only a few cases in their lifetime. Collecting medical information from these patients will help to provide information to overcome this barrier to advancement.
There is a general fear that patients with cystic lung diseases, such as BHD and PLCH, will have an increased risk of suffering from a pneumothorax (collapsed lung) due to an increase of the size of a cyst (fluid-filled sac) in the lungs, caused by the low pressure environment of an airplane. However, this risk has never been measured and patients have been unable to make truly informed decisions about air travel. This study aims to determine the risk of pneumothorax (collapsed lung) associated with air travel in patients with BHD and PLCH, and help patients make better informed decisions regarding air travel.
This is a cross-sectional study of individuals with Birt-Hogg-Dubé syndrome (BHD) and Pulmonary Langerhans Cell Histiocytosis (PLCH). A cross-sectional study involves collecting data from participants at one specific time point. We plan to enroll 300 individuals over a 3-year period. Participants will be asked to answer questions about their general health, disease manifestations secondary to BHD or PLCH, details about pneumothoraces (number, which side, treatments needed, etc.), frequency of air travel, and the number of pneumothoraces experienced either during or within 24 hours of air travel. With your permission, we will retain your information in order to clarify any points/details related to this study later, as well as keep you in our Contact Registry system in order to contact you in the future for more studies you may choose to join. You will not receive any drug or treatment as a participant in this study. Educational information may be available on the Rare Diseases Clinical Research Network Rare Lung Diseases Consortium website and the BHD and PLCH Foundation websites. Information may include, but is not limited to, updates on BHD/PLCH research and upcoming studies, progress of current trials, and disease-specific events, such as education days and patient/doctor meetings.
You are eligible to participate if:
University of Cincinnati