Chronic primary adrenal insufficiency

This study tests a new drug, atumelnant, in 150 adults with classic congenital adrenal hyperplasia (CAH). The goal is to see if it can safely control hormone levels and allow patients to take lower doses of their usual steroid medications. Participants will receive either atumeln…

This study tests a daily oral medication called atumelnant in children aged 1 to 18 with classic congenital adrenal hyperplasia, a genetic condition that disrupts hormone production. The goal is to see if the drug can safely normalize hormone levels and allow patients to lower th…

This study is testing the long-term safety and effectiveness of a daily pill called atumelnant for people with classic congenital adrenal hyperplasia (CAH). The drug works by blocking a hormone receptor to help control excess androgen production. Researchers will monitor 150 part…

This early-stage trial is testing a new drug called Lu AG13909 in 42 adults with congenital adrenal hyperplasia (CAH), a rare genetic condition that disrupts hormone production. The study aims to check the drug's safety, how it moves through the body, and its effects on hormone l…

This study tests whether the drug Isturisa can improve blood sugar, cholesterol, blood pressure, weight, and bone strength in people with mild autonomous cortisol secretion (MACS), a condition where the body makes too much cortisol. Ten adults with MACS will take Isturisa for two…

This study tests a low dose of the drug osilodrostat in 15 adults with mild autonomous cortisol secretion (MACS), a condition where the body makes too much cortisol. The goal is to see if the drug is safe and can help balance cortisol levels. Participants will take the pill and b…

This study tests whether a once-daily dual-release hydrocortisone pill (Plenadren) works better than standard multiple-dose glucocorticoids for adults with congenital adrenal hyperplasia. The trial will enroll 150 adults and measure changes in cholesterol, blood sugar, weight, bl…

This study explores whether 8 weekly telehealth music therapy sessions can improve quality of life and reduce depression and anxiety in adults with autoimmune endocrine diseases (like Type 1 diabetes or Hashimoto's) who also have depression. Ten participants will meet with a boar…

This study follows people with SPLIS, a rare inherited metabolic condition, to map its natural history—how the disease unfolds over time. Researchers will track growth, organ function, quality of life, and survival in about 28 participants. The goal is to understand the full rang…

This natural history study aims to gather information from up to 3,000 people with genetic conditions that cause too much androgen (male-like hormones), such as congenital adrenal hyperplasia (CAH) and familial male-limited precocious puberty (FMPP). Participants undergo various …

This study looks at how women with a severe form of congenital adrenal hyperplasia (classic 21-hydroxylase deficiency) become pregnant and what happens during their pregnancies. Researchers will collect information from medical records and phone interviews with 200 adult women. T…

This study looks at newborns who lose too much salt due to rare hormone problems that can be mistaken for a more common condition called congenital adrenal hyperplasia. Researchers want to find out how often these rare conditions happen and describe their symptoms, genetics, and …

This study is creating a large database to collect information on people with rare diseases like amyloidosis, sarcoidosis, and Gaucher disease. Researchers will track patients' health over time, including their symptoms, treatments, and outcomes. The goal is to improve diagnosis …

This study tests a special radioactive tracer called [18F]FNP-59 to see if it can safely and clearly show cholesterol activity in the adrenal gland using PET scans. About 24 people will take part, including healthy volunteers and those with known adrenal problems. The goal is to …

This study is building a large group of 600 adults with various adrenal diseases, like Cushing's syndrome and adrenal tumors. Researchers will track their standard treatments (surgery, radiation, or medication) and outcomes. The goal is to learn more about these conditions, impro…

This study collects medical and genetic information from people with SPLIS, a rare condition caused by a faulty enzyme. Researchers will track survival and when kidney problems start. No treatments are given, but the registry may help future research.