Maternally-inherited diabetes and deafness

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 blood test for NT-proBNP can spot undiagnosed heart failure in 706 people with diabetes who are at high risk. Those with elevated levels get a heart ultrasound and exam. The goal is to see if this screening strategy leads to more early diagnoses and pro…

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 collects blood samples from people with pancreatic diseases to look for markers that might signal pancreatic cancer. The goal is to see if a blood test could detect the cancer earlier than current methods or help track how the disease changes during treatment. Samples …

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 looks at how a measure called the hemoglobin glycation index (HGI) changes over time in 750 adults with diabetes who use continuous glucose monitors. HGI compares lab-measured blood sugar levels with estimated levels from a glucose monitor. Researchers will collect dat…

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 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 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 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…

This observational study tracks 300 adults with diabetes who take SGLT-2 inhibitors and are recovering from surgery in the intensive care unit. Researchers want to find out how often a rare type of diabetic ketoacidosis (called euglycemic DKA) occurs after surgery. The goal is to…