Hereditary endocrine growth disease

This study tests the drug upadacitinib (Rinvoq) in 30 people with rare genetic disorders that overactivate the JAK-STAT immune pathway. The trial has four phases over 12 months, including an open-label phase to find the best dose and a randomized withdrawal phase to compare the d…

This study tests whether the drug metyrapone can safely lower cortisol levels in people with mild autonomous cortisol secretion (MACS), a condition where the adrenal glands produce too much cortisol. Participants will receive either metyrapone or a placebo for a short period, and…

This study follows 100 adults with congenital adrenal hyperplasia (CAH) who switch from standard steroids to a timed-release hydrocortisone (Efmody). The goal is to see if better mimicking the body's natural cortisol rhythm improves hormone levels, metabolic health, and quality o…

This phase 3 study tests a new weekly growth hormone injection (inpegsomatropin) against an existing one (givopegsomatropin) in 84 girls with Turner syndrome who have short stature. The goal is to see which works better for increasing growth over 52 weeks. Participants are prepub…

This study tests a drug called crinecerfont in 20 children aged 3 months to 4 years with classic congenital adrenal hyperplasia (CAH). The goal is to see if the drug is safe and tolerable. Participants must already be on stable hydrocortisone treatment. The study is not yet recru…

This study tests a new medicine called GenSci134, a long-acting growth hormone, in 128 children with growth hormone deficiency (GHD). The goal is to find the best dose and see if it is safe and helps children grow taller. In the first part, children get one shot of GenSci134; in …

This trial tests two ways of giving estrogen to girls and young women with Turner syndrome to help them start puberty. Participants will be randomly assigned to use either an estrogen gel applied to the skin or an estrogen tablet taken by mouth for 19 months. The study will compa…

This early-stage study tests a new drug called YB-1113 for women with premature ovarian insufficiency (early menopause). The goal is to see if it is safe and can help restart ovarian function, potentially allowing women under 40 to become pregnant. Only 6 participants will receiv…

This study tests whether a daily supplement made from mealworm flour can improve the nutritional health of 40 children aged 2-10 with chronic malnutrition in the Democratic Republic of the Congo. One group will receive the mealworm supplement, while the other gets a traditional c…

This study tests an oral medicine called GS3-007a for children with growth hormone deficiency. In the first part, kids receive different doses or a placebo for 14 days to check safety. In the second part, they take the chosen dose or a standard injection for 52 weeks to see how w…

This pilot study tests a 4-week program based on acceptance and commitment therapy (ACT) for women who have experienced a miscarriage, stillbirth, or newborn death within the past year. The program includes six sessions plus a booster, combining in-person and video meetings. Rese…

This study tests an experimental drug called BMB-101 in 16 adults with Prader-Willi syndrome who struggle with severe, constant hunger. The trial is double-blind and placebo-controlled, meaning some participants get the drug and some get a dummy treatment, and neither they nor th…

This study tests a structured program to help 40 adolescents and young adults with congenital adrenal hyperplasia (CAH) move from pediatric to adult healthcare. Participants will learn about their condition, emergency preparedness, and self-management. The goal is to see if the p…

This study will follow 3,000 young women (ages 15-39) with cancer to understand how treatments like chemotherapy and immunotherapy impact their fertility, pregnancy outcomes, and quality of life. Researchers will also look at the safety and success of fertility preservation metho…

This study will follow 300 Belgian children with growth hormone deficiency for three years to see how their bodies respond to daily or weekly growth hormone shots. Researchers will measure growth, weight, blood sugar, fats, and other health markers. The goal is to understand whic…

This study will enroll 1,260 pregnant women in Botswana, Kenya, and Zimbabwe to test a package of support that includes problem-solving sessions, infant feeding advice, and play groups. The goal is to see if these interventions improve child development and growth by age 2. Resea…