Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency

This study compares a new microfluidic device, SwimCount Harvester, to standard sperm preparation methods in couples undergoing IVF with genetic testing (PGT-A). About 1,600 couples will be randomly assigned to one of the two methods. The goal is to see if the device leads to mor…

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 tests whether adding a substance called cpFT to the liquid used to grow eggs and embryos can increase the number of live births in women under 37 who are having a type of IVF called ICSI. About 366 couples took part. The goal is to see if this simple change can improve…

This study records 30-second videos of embryos from 1,000 IVF patients and uses artificial intelligence to analyze their movement patterns. The goal is to see if these patterns can predict whether an embryo will lead to a successful pregnancy. Participants receive standard care a…

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 watches a single gynecology resident as they learn to perform a hysterectomy through the vagina using a special camera, leaving no belly scars. The goal is to see how quickly the resident improves, measuring surgery time and any complications. Nineteen women with benig…

This study is creating a biobank—a collection of blood samples and health data—to help researchers better understand gynecological disorders, infertility in men and women, and pregnancy-related conditions. Up to 3,000 participants will provide samples at San Raffaele Hospital in …

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…