Familial hyperinsulinism

This study tests a new medicine called HM15136 for people aged 2 and older with congenital hyperinsulinism (CHI) who still have low blood sugar despite standard treatments. The medicine is given as a weekly shot for 8 weeks. The goal is to see if it is safe and helps control bloo…

This study is testing the long-term safety of dasiglucagon, a drug given as a continuous injection under the skin, in children with congenital hyperinsulinism (a condition causing dangerously low blood sugar). The trial includes 42 children who completed earlier studies. Research…

This study tests an investigational drug called RZ358 for people with congenital hyperinsulinism, a rare condition causing dangerously low blood sugar. The trial involves 56 participants aged 3 months to 45 years who still have low blood sugar despite standard treatments. Over 24…

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

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 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 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…