Erythropoietic protoporphyria

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 expanded access program provides bitopertin (DISC-1459) to patients aged 12 and older with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP) who have no satisfactory treatment options in the US. The goal is to offer access and gather safety information. Pa…

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 tests whether a machine that keeps donated livers working outside the body can help doctors safely use livers that were previously considered too risky for transplant. About 186 adults on the liver transplant waiting list will be randomly assigned to either receive a s…

This study tests whether a daily nutritional supplement containing resveratrol, quercetin, taurine, inulin, and whey protein can improve liver function and quality of life in adults with liver disease from chronic hepatitis C. Over 12 weeks, 26 participants will take either the s…

This study is for people with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), rare conditions that cause severe pain and skin reactions to sunlight. The purpose is to check the long-term safety of an oral medication called dersimelagon. About 301 participant…

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 early-stage trial is testing whether giving a mix of healthy gut bacteria (from donors) to people hospitalized with serious liver disease is safe and tolerable. The study involves 24 adults with liver failure or cirrhosis who have low levels of certain gut metabolites. Resea…

This study aims to create a simple blood test to find liver cancer at an early, more treatable stage. Researchers will analyze genetic material in the blood of 600 adults, including those with liver cancer, chronic liver disease, and healthy volunteers. The goal is to improve ear…

This study tests a new endoscopic ultrasound method (EUS-SWQ) to measure liver stiffness and diagnose liver fibrosis (scarring) in people with chronic liver disease. Researchers will compare EUS-SWQ results with standard liver biopsy and FibroScan in 65 adults. The goal is to see…

This study is testing a new, non-invasive ultrasound device called the Hepatoscope to screen for liver scarring (fibrosis) and fatty liver in people at risk. Researchers will enroll 200 patients with risk factors like diabetes or elevated liver enzymes. Those with high stiffness …

This study is testing a software tool called Belle.ai that uses artificial intelligence to help doctors diagnose common skin diseases. About 400 patients at dermatology clinics will have three photos taken of their skin condition. The AI will analyze the photos and suggest possib…

This study is testing whether special ultrasound scans can accurately detect liver damage in children without needing a needle biopsy. Researchers will compare these scans to standard biopsy results in 550 children with various liver conditions. If the scans prove reliable, they …

This study is testing a blood test called hepatomiR to see if it can predict when people with chronic liver disease will develop serious complications like fluid buildup in the belly, bleeding from the esophagus, or confusion from liver failure. Researchers will follow 156 outpat…

This study tests a group counseling program called Healing HEARTS to help people with conditions like obesity, skin disease, cancer, HIV, diabetes, or chronic pain deal with internalized stigma. Participants will either join the counseling program or a peer support group. The goa…

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 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 how the drug mirdametinib is absorbed and removed from the body in people with moderate or severe liver problems compared to those with normal liver function. It involves 32 adults and is for research only, not to treat any condition. The goal is to understand…

This study aims to collect medical data and biological samples (blood, urine, stool, and tissue) from up to 4,000 adults with known or suspected gastrointestinal diseases. Participants receive standard medical care at the NIH, and any extra samples or leftover tissue from procedu…

This early-stage study looks at how a new drug, INCB123667, behaves in the bodies of 16 adults with moderate or severe liver disease. Researchers will measure drug levels and watch for side effects. The goal is to gather safety information, not to treat the liver condition.

This early-stage study is testing how the drug BMS-986435 behaves in the body and whether it is safe for people with mild to moderate liver problems compared to those with healthy livers. 24 adults will receive a single dose, and researchers will measure drug levels and monitor f…

This early-phase study looks at how a single dose of the drug inavolisib behaves in people with moderate or severe liver impairment compared to healthy volunteers. Researchers will measure drug levels in the blood and check for side effects. The goal is to understand if liver pro…

This study looks at how a single dose of the experimental drug BI 1291583 behaves in the blood of people with and without liver problems. The drug is being developed for bronchiectasis, a chronic lung disease. About 32 adults aged 18–80 will take part, divided into groups based o…

This early-stage study is testing a single dose of the drug eloralintide in 36 people with different levels of liver function—from healthy to severely impaired. Researchers want to see how the body absorbs and processes the drug and whether it causes side effects. The goal is to …

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 early-stage study looks at how the liver handles two experimental drugs, AZD9550 and AZD6234, in people with moderate to severe liver problems compared to healthy volunteers. About 28 adults will receive a single injection of one drug. The goal is to see if liver impairment …

This study collects biological samples—like blood, skin biopsies, and swabs—from people with or at risk for skin diseases, as well as healthy volunteers. Researchers will use these samples to study the causes of skin conditions and explore potential treatments. Up to 700 particip…

This early-stage study by Pfizer looks at how different levels of liver function affect the processing of a new drug called PF-07328948. About 26 adults with and without liver impairment will take a single tablet and stay at the clinic for 6 days for monitoring and blood tests. T…

This early-stage study is recruiting 44 adults aged 18 to 80, including both healthy people and those with liver problems. All participants will take a single tablet of the drug BI 3000202. Researchers will measure how the drug moves through the body and check for side effects ov…

This study follows 1,500 people with porphyria over many years to learn how the disease progresses, what symptoms appear, and how it affects pregnancy and lifespan. Researchers will collect medical records and lab results to create a clearer picture of the condition. No new treat…

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 early-stage study is testing how the drug radiprodil behaves in people with mild, moderate, or severe liver problems compared to healthy adults. About 40 participants will receive a single dose and be monitored for about a week. The goal is to see if liver impairment affects…

This study is looking for new blood markers that could show how much scarring (fibrosis) is in the liver of people with chronic liver disease. Researchers will compare these markers to current tests like FibroScan and liver biopsy. The goal is to find a more accurate and less inv…

This observational study is gathering information on how erythropoietic protoporphyria (EPP) and X-linked porphyria (XLP) affect people aged 12 and older. Over 6 months, researchers will track symptoms, light exposure, and blood levels of protoporphyrin IX (PPIX) in 50 participan…

This early-stage study is testing an investigational drug called PF-08653944 in 26 adults, some with healthy livers and others with mild to severe liver impairment. Researchers want to see how liver function affects the way the body processes the drug and whether it is safe. Part…

This study looks at how the body handles a single dose of the drug vepdegestrant in people with moderate to severe liver problems compared to healthy people. About 24 adults (ages 18-70) will take one pill and stay at the clinic for 11 days. The goal is to see if liver function a…

This study will follow 1,200 liver transplant patients in France to understand why some people bleed heavily during surgery while others don't. Researchers will use advanced methods like machine learning to build better prediction tools. The goal is to help doctors manage bleedin…

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 early-stage study is testing a single dose of an experimental drug called EDG-7500 in 32 adults. Some have mild or moderate liver problems, while others have normal liver function. Researchers want to see how the drug moves through the body and if it is safe in people with d…

This study looks at how the drug MK-1084 (calderasib) moves through the body in people with and without liver problems. Researchers will measure drug levels in the blood and check for side effects. About 58 adults will take a single dose and be monitored. The goal is to understan…

This study is creating a digital tool to help teenagers and young adults (ages 14-20) who have had or are waiting for a liver transplant as they move from pediatric to adult care. The tool helps patients and doctors track medication use and well-being from home, reducing hospital…

This study collects blood and tissue samples from 800 people with chronic liver disease or liver cancer. Researchers will use these samples to create lab models, such as cell clusters and mouse tumors, to study these diseases and test new treatments. The goal is to improve unders…

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 testing a new single probe for FibroScan, a device that measures liver stiffness to assess disease. Researchers want to see if one probe can work as well as the current two-probe system. About 309 adults with chronic liver disease will take part across France and Ho…

This study is testing whether a simple neck ultrasound can predict dangerous drops in blood pressure after anesthesia in adults with chronic liver disease. Researchers will measure blood flow in the carotid artery before and after anesthesia in 35 patients. If the method works, i…

This study looks at how mild and moderate liver problems change the way the body handles a single dose of the drug tasurgratinib. Researchers will compare 18 people with stable liver impairment to healthy volunteers matched by age, weight, race, and gender. The goal is to underst…

This study looks at whether a special MRI scan that measures muscle health and frailty can predict death or the need for a liver transplant in people with liver disease. Researchers will follow 1,200 patients who are already getting an MRI for routine care. The goal is to see if …

This early-stage study is testing how the drug TS-172 behaves in the bodies of people with mild or moderate liver impairment. Researchers will measure drug levels in the blood to see if liver function affects how the drug is processed. The study involves 24 Japanese adults and is…

This study tracks 1,000 patients undergoing major liver, pancreas, or bile duct surgery to see if the time it takes for their albumin levels to return to normal can predict complications and length of hospital stay. Albumin is a protein that drops after surgery due to inflammatio…

This study looks at how the body handles a single dose of the cancer drug olverembatinib in people with normal vs. impaired liver function. Researchers will measure drug levels and safety in 48 adults. The goal is to understand if liver problems require dose adjustments.

This study looks at how skin conditions related to cancer or cancer treatments affect the well-being of cancer patients and survivors. About 1,025 participants will fill out questionnaires about their skin condition. The goal is to better understand these effects and improve trea…

This study looks at how a drug called LY3537031 moves through the body in people with mild, moderate, or severe liver problems compared to healthy volunteers. About 32 adults will receive a single injection under the skin. The goal is to understand how liver function affects drug…

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 …

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 looks at the social and economic challenges faced by people with chronic liver disease, like trouble paying for food or housing. Researchers will survey 400 patients and their doctors at Indiana University Health to find out what needs are most common and how patients …

This study looks at medical records from 15,000 people to see how chronic liver diseases (like hepatitis, fatty liver, and cirrhosis) are linked to other health problems. Researchers will track new cases of liver cancer and complications over time. The goal is to better understan…

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…