Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

This program offered vatiquinone, an experimental liquid medication, to patients with inherited mitochondrial diseases like Leigh syndrome who had already completed a previous safety study. The goal was to continue treatment for those who might benefit, but enrollment is now clos…

This study tests whether a stepped alcohol treatment delivered via video or phone calls can help people with advanced liver disease cut back on unhealthy drinking. About 180 participants will be randomly assigned to either the treatment program or usual care. The goal is to see i…

This study tests whether robot-assisted leg exercises can prevent older patients from losing strength and independence during a hospital stay. 488 patients aged 65 and older will either receive robot-guided training or standard care. The goal is to see if the robot helps them wal…

This study compares a new MRI contrast agent, gadopiclenol, to the standard agent, gadoxetate, for imaging liver lesions. Researchers will enroll 23 adults with chronic liver disease or known liver lesions to see if gadopiclenol provides equal or better image quality and lesion v…

This study is testing whether a new blood test score, called GAAD, can detect liver cancer earlier in people with chronic liver disease. The GAAD score combines a person's gender, age, and two blood markers (AFP and PIVKA-II). Researchers will compare the GAAD score to standard u…

This study tests a personalized workplace intervention for 124 Dutch workers with Parkinson's disease, cerebellar ataxia, hereditary spastic paraparesis, or slowly progressive neuromuscular/mitochondrial disorders. A trained facilitator helps employees and their managers identify…

This study tests new vitamin and mineral supplements called EasiVits for children aged 1-16 with inborn errors of metabolism (IEM). These supplements have less carbohydrate and no flavor, so they can be used with different diets and kids can add their own taste. The goal is to se…

This study looks at how lepodisiran enters the blood and leaves the body in people with mild, moderate, or severe liver problems compared to those with healthy livers. About 33 adults will receive a single injection under the skin. The goal is to understand how liver function aff…

This study examines whether the COVID-19 pandemic increased frailty and muscle loss (sarcopenia) in people waiting for a liver transplant. Researchers will compare data from 208 patients assessed before and during the pandemic. The goal is to understand how the pandemic affected …

This study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …

This study was designed to track how COVID-19 infection might worsen the condition of people with inherited metabolic diseases (IMD). Researchers planned to collect information from French patients with IMD who had or had COVID-19 to see how often their metabolic disease got wors…

This study looks at whether an electronic cognitive test called BrainCheck can effectively screen mental function in 100 patients scheduled for liver surgery. Researchers will compare how well patients complete the digital test versus a traditional pen-and-paper assessment. The g…

This study is a registry that will review medical records of 1,000 patients treated for benign or malignant gastrointestinal diseases between 2005 and 2030. Researchers will look at survival, symptoms like heartburn and swallowing trouble, and quality of life. The goal is to lear…

This study planned to test a growth factor medicine (Increlex) in children aged 4-18 with chronic liver disease and short stature. The goal was to see if it could improve growth and quality of life. However, the study was withdrawn before any participants were enrolled, so no res…

This study looks at whether a new ultrasound technique done through the stomach (endoscopic ultrasound elastography) can better predict serious liver problems in people with chronic liver disease. Researchers will measure liver and spleen stiffness in 50 patients and compare resu…

This observational study will follow up to 500,000 adults with chronic liver disease or cirrhosis to understand how the disease progresses and how treatments are used in everyday practice. Researchers will collect data from medical records and patient reports to improve care and …

This study looks at how social factors like income, education, and community support impact recovery in 500 children after liver transplant. Researchers will survey caregivers and interview families to understand barriers to good outcomes. The goal is to find ways to better integ…

This study uses special MRI scans to measure how well muscles produce energy in people with mitochondrial disease. Researchers hope to learn more about the condition and develop a new tool to help diagnose and track it. The study involves 230 participants aged 7 to 75 with suspec…

This study aims to discover new genetic mutations that cause mitochondrial disorders by analyzing tissue samples from up to 6,900 participants. It includes people with suspected or known mitochondrial diseases, such as MELAS or Leigh's Disease, who lack a genetic diagnosis. The r…

This study looks at how a single dose of the experimental drug GZR4 injection behaves in people with mild, moderate, or severe liver impairment compared to those with normal liver function. The goal is to understand the drug's safety and how the body processes it. 36 adults with …

This study planned to test a technique called radiofrequency track cautery during liver, kidney, or spleen biopsies in patients at high risk for bleeding. The idea was to use a small heated probe to seal the biopsy track and reduce bleeding. However, the study was withdrawn befor…

This study watches 200 people with lung, gut, or hormone diseases over time using special brain scans (PET). It aims to see how these diseases change brain activity and whether those changes can predict tumor return, spread, or survival. No new treatment is tested—just observatio…