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

This study tests a new type of stem cell transplant for children with primary immune deficiencies or inherited metabolic disorders. The transplant uses stem cells from a half-matched family donor, which are specially processed to remove certain immune cells. The goal is to see if…

This study tests a bone marrow transplant from a family donor for children under 21 with severe non-cancer blood disorders like sickle cell disease, bone marrow failure, or immune problems. The goal is to see if the transplant can replace the diseased cells with healthy donor cel…

This program offers extra stem cells from a half-matched family donor to patients who are getting a cord blood transplant for serious blood cancers or immune disorders. The goal is to help the bone marrow recover more quickly while the cord blood cells take over permanently. It i…

This study tests whether a device called PTeye, which uses near-infrared light to make parathyroid glands glow, helps surgeons find and protect these tiny glands during thyroid surgery. The trial will compare outcomes in 154 patients who have their first total thyroidectomy, with…

This study tests whether using a special dye (indocyanine green) during total thyroidectomy helps surgeons see and protect the parathyroid glands, reducing the risk of permanent hypoparathyroidism. About 242 adults scheduled for total thyroid removal will be randomly assigned to …

This study is testing whether giving patients unlimited access to a secure website with an explanatory video about thyroid surgery can lower their anxiety before the operation. About 220 adults scheduled for thyroid surgery will take part. Researchers will measure anxiety using s…

This study tests whether adding neck massage, stretches, and pain education to standard voice exercises can improve voice, swallowing, and scar quality after total thyroidectomy. Adults scheduled for total thyroid removal are invited to participate. They will attend sessions with…

This study tests whether giving a drug called dexmedetomidine during thyroid surgery helps patients wake up more smoothly. The drug aims to reduce coughing, agitation, and the amount of anesthesia needed. About 100 adults having thyroid surgery will be randomly assigned to receiv…

This study tests whether a cold plasma device applied during and after thyroid surgery can speed up wound healing and reduce pain and infection. About 26 adults having their thyroid removed will be randomly assigned to get either standard wound care or the plasma treatment. Resea…

This study aims to better understand and treat people with certain inherited metabolic or genetic disorders. Researchers will use standard medical tests like blood work and imaging to diagnose and care for participants, who may also join other related studies. The goal is to expa…

This study looks at children with suspected or confirmed genetic and metabolic disorders to find new disease-causing gene mutations. Researchers will analyze blood samples for DNA and metabolites, and in some cases take a small skin sample. The goal is to better understand these …

This study at Necker Hospital in Paris is checking how well patients with inherited metabolic diseases follow their daily oral medication routines. About 200 patients (children aged 7 and up, teens, and adults) will fill out a questionnaire during a regular visit. The goal is to …

This study at the National Institutes of Health is looking at 1,000 adults with known or suspected hormone gland (endocrine) disorders. The goal is to better understand these conditions and help train doctors. Participants may receive tests, treatments, or surgery as part of thei…

This study enrolls up to 15,000 children with known or suspected endocrine or metabolic disorders, along with their family members. Researchers will collect medical records, blood, saliva, and other samples to identify genetic changes linked to these conditions. The goal is to be…

This study is creating a large collection of blood, urine, stool, and heart tissue samples from 10,000 people with and without heart or metabolic conditions. The goal is to store these samples along with medical information to speed up future research into what causes these disea…

This study tests a new communication tool called 'Let's Get REAL' that helps children and teens (ages 8-17) and their families talk together about stem cell transplant or cellular therapy decisions. The goal is to see if the tool is easy to use and helpful for families. About 60 …

This study enrolls adults with known or suspected endocrine (hormone gland) disorders, such as diabetes or thyroid disease, to help researchers learn more about these conditions. Participants will undergo medical exams, blood and imaging tests, and possibly genetic testing. The m…

This study is testing a tool called B-COMPASS that uses a 22-question survey to predict whether people will follow their prescribed treatments. Researchers will enroll 3100 adults with cardiovascular, endocrine, immune, nerve, cancer, or rare diseases across Europe. The goal is t…

This study uses MRI scans to look for brain differences in people with metabolic diseases compared to healthy volunteers. Researchers will track changes over time and link them to body fat and other health measures. About 126 adults will take part at Ulm University Hospital. No d…

This study looks at the best dose of a sedative called ciprofol for people having thyroid surgery. About 101 adults will receive this medicine to put them to sleep, and researchers will track how their brain activity changes. The goal is to find the exact amount needed for safe a…

This study looks at how often young children (ages 1 to 6) with inherited metabolic diseases develop eating disorders when they are on special diets. Researchers will use a feeding scale to measure eating problems in 200 children. The goal is to understand the link between these …

The SMILE study is tracking 10,000 adults aged 18 and older to see how sarcopenia (age-related muscle loss) and metabolic diseases like diabetes influence overall health and lifespan. Researchers will collect data from medical records, tests, and surveys over time. This is an obs…

This observational study will enroll 150 people to better understand thyroid hormone resistance syndromes, rare conditions where the body does not respond properly to thyroid hormone. Researchers will use genetic testing, blood analysis, and lab-grown cells to find better ways to…

This study follows 100 children under 18 who are already on a ketogenic diet for conditions like drug-resistant epilepsy, autism, chronic migraine, or brain tumors. Researchers want to see if the diet supports healthy growth, improves symptoms, and boosts quality of life. The die…