Hereditary hypoparathyroidism

This phase 2 trial tests whether ruxolitinib, a drug already approved for certain blood disorders, can help regrow hair in people with APECED, a rare immune condition that often causes severe alopecia areata. About 70 participants aged 12 to 75 will take the pill twice daily for …

This study tests a drug called encaleret in 28 children (birth to 17 years) with autosomal dominant hypocalcemia type 1 (ADH1), a rare genetic condition causing low blood calcium. The goal is to see if the drug can safely raise calcium levels and reduce urinary calcium loss. Part…

This study tests a device called PTeye™ that uses near-infrared light to help surgeons see and protect tiny parathyroid glands during total thyroid removal. About 210 adults in Hong Kong will be randomly assigned to standard surgery or PTeye™-assisted surgery. The goal is to see …

This phase 2 trial tests a drug called emapalumab in 10 people with APECED, a rare disease where the immune system attacks the body. The drug aims to reduce gut inflammation (enteritis) that causes severe symptoms. Participants receive 7 IV doses over 6 months, and researchers tr…

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 reviews 10 years of medical records from 600 adults who had thyroid surgery at Minia University Hospital. The goal is to find out which patients are most likely to develop low calcium levels after surgery, a common complication. By identifying key risk factors, doctors…

This study aims to understand why some people are more prone to fungal infections, especially from Candida yeast. Researchers will collect blood, saliva, urine, and tissue samples from people with immune disorders, their family members, and healthy volunteers. No treatment is giv…

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 follows up to 3,000 people who have, are at risk for, or are related to someone with a parathyroid disorder. Researchers will collect medical records, questionnaires, and samples like blood and saliva to learn what causes these conditions and how they change over time.…

This study aims to understand why some people get severe or unusual fungal infections due to immune system problems. Researchers will collect blood, tissue, and other samples from up to 1,200 participants over 25 years. No new treatments are being tested; the goal is to learn mor…

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 observational study will follow 2000 children and adults with imprinting disorders—rare genetic conditions like Silver-Russell and Prader-Willi syndromes. Researchers aim to describe the natural history of these diseases and identify common metabolic profiles, risks for obes…

This study is collecting blood, urine, and stool samples from 500 children with autoimmune diseases and healthy controls. Researchers will analyze these samples to find molecular patterns that could help diagnose these conditions and guide treatment decisions. The goal is to crea…