Hereditary endocrine growth disease

Researchers are testing an experimental oral drug called OMS1620 in 84 healthy adults. The drug blocks the receptor that adrenocorticotrophic hormone (ACTH) uses to signal the adrenal glands. The trial measures whether single and repeated doses are safe, how the drug moves throug…

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 trial tests whether giving adolescent girls a daily multiple micronutrient supplement (with or without extra nutrients) improves their growth, brain function, bone health, and overall well-being compared to the standard weekly iron-folic acid pill. About 3,000 girls aged 10–…

This study tests whether ultra-low dose estradiol patches, started between ages 8 and 11.5, are safe and may improve thinking speed and short-term memory in girls with Turner syndrome who have ovarian failure. Participants wear a small fraction of a standard patch, changed weekly…

This study evaluates the long-term safety of an oral medication called LUM-201 for children with growth hormone deficiency (GHD). Children who completed a prior 12-month trial can receive LUM-201 daily for up to 36 additional months. The goal is to see if the pill is safe and tol…

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 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 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 looks at blood health in children with numerical chromosomal disorders, such as Down syndrome, Turner syndrome, Klinefelter syndrome, Edwards syndrome, and Patau syndrome. Researchers will measure blood counts and check for issues like anemia, low platelets, or abnorma…

This study asks whether women with lipodystrophy syndromes or Turner syndrome experience lower sexual quality of life than women in the general population. Researchers will compare survey responses from affected women with those from a large French cohort. The goal is to understa…

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 explores whether at-home saliva samples can reliably measure key steroid hormones in people with congenital adrenal hyperplasia (CAH), a condition requiring lifelong hormone therapy. Currently, monitoring involves morning blood tests that miss daily hormone fluctuation…

This study follows babies and young children (up to age 5) who have a genetic diagnosis of ataxia telangiectasia (A-T), a rare disease that affects movement and immunity. Researchers use brain and lung scans, blood tests, and movement analysis to spot early signs of disease progr…

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…