Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha

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 placing a placental-based allograft called Amnioeffect on the surgical wound improves scar appearance, pain, and swallowing after thyroid or parathyroid surgery. About 334 adults will be enrolled, with half receiving the graft and half getting standard ca…

This study looks at how thyroid problems impact pain, tiredness, foot shape, muscle strength, and leg function in women who have regular periods. Researchers will compare 51 women with thyroid issues to healthy women to see what differences exist. The goal is to better understand…

This study compares two methods of monitoring the nerve that controls the vocal cords during thyroid and parathyroid surgery. The standard method uses a breathing tube with electrodes, while the new method uses tiny needles placed directly into the voice box cartilage. Researcher…

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 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…