Telomere syndrome

This Phase 3 trial tests elafibranor, a daily pill, against a placebo in 276 adults with primary biliary cholangitis (PBC) and cirrhosis. The goal is to see if elafibranor can prevent disease worsening, such as liver failure or death, over up to 3.5 years. Researchers will also m…

This study follows about 424 people with primary biliary cholangitis (PBC) who are taking elafibranor as part of their normal care. Researchers will track how well the drug controls liver damage and symptoms like itching over 5 years. The goal is to see if elafibranor works safel…

This Phase 3 trial tests whether seladelpar, a daily pill, can improve outcomes for people with primary biliary cholangitis (PBC) who also have compensated cirrhosis. About 318 adults will receive either seladelpar or a placebo for up to 36 months. The study tracks serious events…

This early-stage trial is testing whether a combination of two natural substances, deoxycytidine and deoxythymidine, is safe for people with telomere biology disorders. These rare genetic conditions cause premature aging, bone marrow failure, and lung scarring. Up to 36 participa…

This phase 2 trial tests a special stem cell transplant for people with inherited bone marrow failure disorders like Fanconi anemia. The transplant uses a technique to remove certain immune cells, aiming to reduce the need for long-term immune-suppressing drugs and lower infectio…

This study is for adults with primary biliary cholangitis (a chronic liver disease) who also have cirrhosis and did not respond well to the usual treatment, ursodeoxycholic acid. Researchers want to see if adding fenofibrate to their treatment can improve liver health by normaliz…

This long-term study is testing whether adding fenofibrate to standard ursodeoxycholic acid is safe for people with primary biliary cholangitis (PBC), a rare liver disease. About 300 adults who have already completed a prior fenofibrate study will take the combination and be moni…

This study tests the long-term safety of combining fenofibrate with standard treatment (ursodeoxycholic acid) in 150 adults with primary biliary cholangitis, a chronic liver disease. Participants previously completed a related study and will take fenofibrate capsules daily. Resea…

This Phase 3 trial tests whether adding fenofibrate to standard ursodeoxycholic acid (UDCA) therapy improves liver health in people with primary biliary cholangitis (PBC) who do not respond well to UDCA alone. About 150 adults will receive either the combination or a placebo plus…

This study tests a new drug called CS0159 in 135 adults with primary biliary cholangitis (PBC), a chronic liver disease. Participants must have had an inadequate response or intolerance to the standard treatment UDCA. The trial compares CS0159 to a placebo over 52 weeks to see if…

This study tests whether fenofibrate, a drug used for high cholesterol, can improve liver function in adults with primary biliary cholangitis (PBC) who haven't been treated before. About 132 participants will take either fenofibrate or the standard drug UDCA for 12 months. The go…

This phase 2 trial is testing a stem cell transplant using a milder chemotherapy regimen to treat people with severe immune deficiencies and inherited bone marrow failure. The goal is to see if donor cells can safely take over and rebuild a healthy immune system. Up to 27 partici…

This study looks for early signs of primary biliary cholangitis (PBC) in adults who have certain antibodies (AMA) but normal liver enzyme levels (ALP). Researchers will perform liver biopsies and special blood tests on 80 participants to find clues that could lead to earlier diag…

This study tests a drug called golexanolone in 84 people with primary biliary cholangitis (PBC) who suffer from significant fatigue and cognitive problems. Participants receive either the drug or a placebo for up to 28 days. The goal is to see if the drug is safe and can improve …

This pilot study tests whether quercetin, a natural antioxidant found in many plants, is safe for people with Dyskeratosis congenita or telomere biology disorders. Twelve participants will take quercetin for 24 weeks while researchers monitor side effects and how well people stic…

This study tests an experimental drug called volixibat for people with primary biliary cholangitis (PBC) who suffer from severe itching. The trial will involve 260 adults and compare volixibat against a placebo to see if it safely reduces itch severity and improves quality of lif…

This study tests whether a program combining exercise, nutritional advice, and psychological support can reduce fatigue in people with primary biliary cholangitis (PBC). 64 participants with moderate to severe fatigue will be randomly assigned to either the rehab program or stand…

This study follows people with acquired or inherited bone marrow failure for up to 20 years to learn how the diseases and treatments affect the body over time. Participants, aged 2 and older, will have regular check-ups and tests every 1 to 3 years. The goal is to better understa…

This study is creating a central database and tissue bank for rare diseases affecting the kidneys and liver, such as ARPKD and Joubert syndrome. Researchers will collect medical information, genetic samples, and tissues from 200 participants to help doctors and scientists better …

This study is observing 400 people aged 12 and older who have noncirrhotic portal hypertension (NCPH) or are at risk for it. NCPH is a liver condition that increases blood pressure in the liver's blood vessels without causing cirrhosis, and often has no early symptoms. Researcher…

This study is a registry that will follow 500 people with primary biliary cholangitis (PBC) in Austria. Researchers will collect medical data and optional blood or liver samples to learn how the disease progresses and what complications arise. No new treatment is being tested; th…

This study follows 2000 people with severe liver-related high blood pressure who receive a TIPS procedure, which creates a bypass in the liver. Researchers will track survival, need for liver transplant, and complications like confusion or liver failure over 12 months. The goal i…

This study is using advanced whole-genome sequencing to find hidden genetic causes of cholestatic liver disease in adults whose condition remains unexplained after standard tests. Researchers will compare the DNA of 60 affected adults to a large group of healthy controls. The goa…

This study looks at the gut bacteria of 3000 adults with chronic liver diseases like autoimmune hepatitis and fatty liver. Researchers want to find specific bacteria linked to each disease to better understand how the gut and liver interact. This is an observational study, not a …

This study looks at 3,000 people with primary biliary cholangitis (PBC) to see how their blood levels of alkaline phosphatase (ALP) after treatment relate to their risk of liver complications. The goal is to create a model that predicts who will do well and who might need stronge…

This study compares two methods for measuring blood pressure in the liver (portal hypertension) in people with cirrhosis or other liver conditions. The standard method (HVPG) uses a catheter inserted through a neck vein, while the newer method (EUS-PPG) uses an endoscope passed t…

This study is creating a large collection of blood, urine, stool, bile, and bile duct cells from up to 9,150 people with cholestatic liver diseases like primary biliary cholangitis and primary sclerosing cholangitis, as well as from healthy volunteers. The samples and medical dat…

This study looks at 1,000 people with alcohol-related liver disease to understand how their genes and drinking habits together raise the risk of liver cancer. Researchers will analyze DNA and lifestyle factors to create a risk score that could help doctors decide who needs regula…

This study looks at how certain genes increase the risk of liver cancer (hepatocellular carcinoma) in people with nonalcoholic fatty liver disease (NAFLD). Researchers will follow 500 adults aged 45-75 with NAFLD to understand how genetic factors and lifestyle interact. The goal …

This study aims to identify specific blood markers that can distinguish hepatitis caused by immune checkpoint inhibitors from other types of autoimmune hepatitis. Researchers will collect blood samples and liver tissue from 60 adults receiving immunotherapy. The goal is to improv…

This early-stage study will test a drug called saroglitazar magnesium in 6 adults with moderate liver scarring (cirrhosis) caused by cholestatic liver disease. The main goal is to see how the drug moves through the body and if it is safe when taken every other day. Participants w…

This study will follow 4,000 people with primary biliary cholangitis (PBC), a chronic autoimmune liver disease, across multiple hospitals in China. Researchers will track survival, need for liver transplant, and common symptoms like fatigue and itching. The goal is to better unde…