Familial hypocalciuric hypercalcemia

This study tests a drug called H01 (hymecromone) in adults with interstitial lung disease, a condition that causes lung scarring and makes breathing hard. The goal is to see if H01 can lower a marker of lung damage and improve lung function. Participants take the drug as a tablet…

This study tests a new type of stem cell transplant for children with primary immune deficiencies or inherited metabolic disorders. The transplant uses stem cells from a half-matched family donor, which are specially processed to remove certain immune cells. The goal is to see if…

This study tests a bone marrow transplant from a family donor for children under 21 with severe non-cancer blood disorders like sickle cell disease, bone marrow failure, or immune problems. The goal is to see if the transplant can replace the diseased cells with healthy donor cel…

This study looks at whether monitoring the immune response to the cytomegalovirus (CMV) can help prevent CMV disease in people who receive a lung transplant. About 100 adult lung transplant patients who have had CMV in the past will be followed. The goal is to see if tracking CMV…

This study tests whether quercetin, a natural compound found in many fruits and vegetables, can slow lung scarring and improve breathing in people with pulmonary fibrosis. Half of the 100 participants will take quercetin pills daily for 24 weeks, while the other half receive stan…

This early-stage trial tests a single dose of an inhaled drug called RJ026 in 42 healthy volunteers and 42 people with interstitial lung disease (ILD). The goal is to see how much drug reaches the lungs and blood, and whether it is safe. Researchers hope that inhaling the drug wi…

This program offers extra stem cells from a half-matched family donor to patients who are getting a cord blood transplant for serious blood cancers or immune disorders. The goal is to help the bone marrow recover more quickly while the cord blood cells take over permanently. It i…

This study aims to find better, non-invasive tests to diagnose and predict the course of interstitial lung disease (ILD). Researchers will test blood and breath samples from 750 people, including pigeon fanciers at high risk for ILD and patients already diagnosed. The goal is to …

This study is testing a special MRI scan that uses xenon gas to take detailed pictures of lung function. It includes 260 healthy volunteers and people with lung diseases like asthma, COPD, and cystic fibrosis. The goal is to see if this method can better detect and measure lung p…

This study tests a special PET scan that uses a radioactive tracer to find collagen buildup in the lungs, a sign of early scarring. Researchers will scan 30 people, including relatives of patients with pulmonary fibrosis and those with early lung abnormalities. The goal is to see…

This study tests whether using a robotic arm during a lung biopsy helps doctors get better tissue samples to diagnose interstitial lung disease. About 30 adults with unclear CT scans will be randomly assigned to either standard or robotic-assisted bronchoscopy. The goal is to see…

This study tests whether a simple, non-invasive nail microscope exam (capillaroscopy) can help doctors find connective tissue disease faster in people newly diagnosed with interstitial lung disease. 48 adults will get the exam alongside standard care. The goal is to see if this e…

This early-phase study is testing a new imaging agent called [68Ga]CBP8 to see if it can safely and accurately detect collagen buildup (scarring) in the lungs. Researchers will compare scans from healthy volunteers, lung cancer patients, and people with pulmonary fibrosis. The go…

This study looks at whether automated software can consistently measure the amount of lung scarring (interstitial lung disease) on chest CT scans. Researchers will scan 150 adults with known lung scarring twice in a row to see if the measurements match. The goal is to improve the…

This study aims to see if bundling all routine tests and doctor visits into one coordinated hospital trip can save time for people with interstitial lung disease. About 152 adults with the condition will either receive standard care or the new streamlined approach. The goal is to…

This study tests whether a 12-week home-based pulmonary rehabilitation program, combined with health coaching, can improve quality of life and physical activity in people with fibrotic interstitial lung disease. Participants will do daily breathing exercises, balance walks, and m…

This study aims to better understand and treat people with certain inherited metabolic or genetic disorders. Researchers will use standard medical tests like blood work and imaging to diagnose and care for participants, who may also join other related studies. The goal is to expa…

This study looks at children with suspected or confirmed genetic and metabolic disorders to find new disease-causing gene mutations. Researchers will analyze blood samples for DNA and metabolites, and in some cases take a small skin sample. The goal is to better understand these …

This study tests whether bundling key tests like scans and lung function tests into a single, fast-tracked appointment can help people with suspected interstitial lung disease get a diagnosis sooner. About 92 adults will be randomly assigned to either the usual step-by-step testi…

This study at Necker Hospital in Paris is checking how well patients with inherited metabolic diseases follow their daily oral medication routines. About 200 patients (children aged 7 and up, teens, and adults) will fill out a questionnaire during a regular visit. The goal is to …

This study at the National Institutes of Health is looking at 1,000 adults with known or suspected hormone gland (endocrine) disorders. The goal is to better understand these conditions and help train doctors. Participants may receive tests, treatments, or surgery as part of thei…

This study enrolls up to 15,000 children with known or suspected endocrine or metabolic disorders, along with their family members. Researchers will collect medical records, blood, saliva, and other samples to identify genetic changes linked to these conditions. The goal is to be…

This study is creating a large collection of blood, urine, stool, and heart tissue samples from 10,000 people with and without heart or metabolic conditions. The goal is to store these samples along with medical information to speed up future research into what causes these disea…

This study looks at whether an artificial intelligence (AI) tool can predict if lung scarring (pulmonary fibrosis) will get worse over time. Researchers will analyze CT scans from 200 people with either idiopathic pulmonary fibrosis (IPF) or other types of interstitial lung disea…

This study is a registry that will follow about 900 adults with both interstitial lung disease and pulmonary hypertension. Researchers will collect information on patients' medical history and track changes in their condition over time. The goal is to better understand these dise…

This study follows 4,000 people with interstitial lung disease (including conditions like pulmonary fibrosis and sarcoidosis) to understand how the disease naturally changes over time. Researchers will collect medical data and blood samples, and compare them to a healthy control …

This study tests a new communication tool called 'Let's Get REAL' that helps children and teens (ages 8-17) and their families talk together about stem cell transplant or cellular therapy decisions. The goal is to see if the tool is easy to use and helpful for families. About 60 …

This study is analyzing the exhaled breath of 5,000 people with lung or airway diseases to find unique molecular patterns. The goal is to better identify and distinguish different respiratory conditions and improve disease management. Participants simply provide breath samples, a…

This study enrolls adults with known or suspected endocrine (hormone gland) disorders, such as diabetes or thyroid disease, to help researchers learn more about these conditions. Participants will undergo medical exams, blood and imaging tests, and possibly genetic testing. The m…

This study aims to see if analyzing the chemicals in a child's breath can help diagnose and monitor diseases like asthma, neurological disorders, and type 1 diabetes. Researchers will collect breath samples from up to 3,600 children and teens to find patterns linked to these cond…

This study creates a registry and biorepository of lung images and biological samples from 100 people with pulmonary disease. Researchers will use this information to better understand imaging biomarkers and develop new analysis methods for CT and MRI scans. Participants must alr…

This study will follow 1000 adults for up to 10 years, using a special type of CT scan (photon-counting) to look for lung nodules, tumors, and other lung conditions. Researchers will also use artificial intelligence to create a virtual copy of each person's lungs, called a 'digit…

This study measures how hard children with conditions like neuromuscular disease, scoliosis, or heart problems work to breathe. Researchers use a thin tube placed through the nose into the esophagus to measure breathing muscle strength and effort. The goal is to better understand…

This pilot study compares two ways to perform a lung biopsy for people with undetermined interstitial lung disease. One method uses a breathing tube and deep anesthesia (standard), while the other uses only mild sedation and numbing medicine. The goal is to see if the gentler met…

This study is testing a tool called B-COMPASS that uses a 22-question survey to predict whether people will follow their prescribed treatments. Researchers will enroll 3100 adults with cardiovascular, endocrine, immune, nerve, cancer, or rare diseases across Europe. The goal is t…

This study uses donated human lungs to develop a standard method for a new freezing catheter that can take tissue samples (biopsy) and destroy abnormal tissue (ablation). Researchers will test different freezing times and temperatures to find the safest and most effective techniq…

This study looks at whether a new digital education and self-management program is practical and helpful for people with fibrotic interstitial lung disease. About 80 participants will use the program on their phone or computer during rehab or clinic visits. Researchers will measu…

This study is gathering detailed information from 470 adults with chronic inflammatory lung diseases like asthma, COPD, and cystic fibrosis, as well as healthy volunteers. Researchers will analyze clinical, biological, and lifestyle factors to identify distinct disease subtypes. …

This study looks at small molecules (metabolites) in the blood and urine of people with pulmonary hypertension caused by lung fibrosis. Researchers want to see how these metabolites change with treatment and whether they can tell who will respond well. The goal is to better under…

This study uses MRI scans to look for brain differences in people with metabolic diseases compared to healthy volunteers. Researchers will track changes over time and link them to body fat and other health measures. About 126 adults will take part at Ulm University Hospital. No d…

This study is building a bio-bank of blood samples from people who have had a lung transplant. Researchers will use these samples to study advanced lung diseases and improve transplant care. The goal is to better understand how infections and other factors affect patient outcomes…

This study is building a large collection of blood, tissue, and fluid samples from 7,000 people with lung cancer, other chest diseases, or lung transplants. The goal is to help researchers learn more about what causes these diseases, how to find them early, and how to treat them …

This study will use advanced CT scans to look at both the lungs and heart in people with interstitial lung disease (ILD). The goal is to find early signs of heart problems, which are common but often missed until serious. Researchers hope to create better ways to predict and mana…

This study is testing a special MRI technique that uses a harmless xenon gas to create detailed images of lung function. Researchers will compare healthy volunteers and people with interstitial lung disease to see if the method can detect problems with air flow, lung structure, a…

This study is looking for better ways to predict if a lung transplant will be rejected. Researchers will collect blood samples from 244 lung transplant recipients over time and analyze them using advanced techniques. The goal is to create a model that can identify early signs of …

This study looks at how often young children (ages 1 to 6) with inherited metabolic diseases develop eating disorders when they are on special diets. Researchers will use a feeding scale to measure eating problems in 200 children. The goal is to understand the link between these …

This study is creating a registry of medical information from people with interstitial lung disease (ILD). Researchers will collect past, current, and future health records from up to 5,000 adults treated at the UPMC Simmons Center. The goal is to build a database that can be use…

The SMILE study is tracking 10,000 adults aged 18 and older to see how sarcopenia (age-related muscle loss) and metabolic diseases like diabetes influence overall health and lifespan. Researchers will collect data from medical records, tests, and surveys over time. This is an obs…

This study is creating a registry and biobank for people with interstitial lung diseases (ILD), including sarcoidosis, idiopathic pulmonary fibrosis, and hypersensitivity pneumonitis. Researchers will collect medical data and biological samples from up to 1,000 participants to su…

This pilot study is testing a new ultrasound tool that measures how much the lungs stretch (strain) in patients on breathing machines in the ICU. The goal is to collect initial data from 10 adults with lung disease to see if this technique can help doctors better monitor and prev…

This study follows 100 children under 18 who are already on a ketogenic diet for conditions like drug-resistant epilepsy, autism, chronic migraine, or brain tumors. Researchers want to see if the diet supports healthy growth, improves symptoms, and boosts quality of life. The die…