Hereditary endocrine growth disease

Researchers are testing Chronocort, a modified-release form of hydrocortisone, against standard immediate-release hydrocortisone in 30 healthy male volunteers. The study measures how the drug moves through the body, including how fast it reaches peak levels and how long it stays …

Researchers are testing several modified, timed-release versions of hydrocortisone, a hormone drug, in healthy male volunteers. The study has two parts: one compares how six different formulations move through the body after a single nighttime dose, and the other checks whether t…

This study tested a new oral drug called atumelnant in 38 adults with classic congenital adrenal hyperplasia, a genetic condition causing hormone imbalances. The drug works by blocking a hormone receptor to lower excess adrenal hormones. Researchers measured safety, side effects,…

This phase 2 trial tests an oral drug called ARD-101 in adults with Prader-Willi syndrome, a genetic condition that causes an unrelenting feeling of hunger. Researchers give the drug twice daily for 28 days to see if it safely reduces hyperphagia, the intense drive to eat, using …

This phase 3 trial is testing a drug called setmelanotide in people with obesity linked to certain gene variants (POMC, PCSK1, LEPR, NCOA1, or SH2B1). About 296 participants, aged 6 to 65, will receive either the drug or a placebo to see if it helps reduce body weight. The study …

This study tests a new long-acting growth hormone called ACP-001, given as a once-weekly injection, in children with growth hormone deficiency. It compares the safety and effectiveness of this weekly shot to the standard daily growth hormone injections over six months. The goal i…

This phase 3 trial tests a long-acting growth hormone called TransCon hGH, given as a once-weekly injection, in about 150 children with growth hormone deficiency. The study aims to see if the weekly shot is safe and helps children grow at a normal rate. All participants receive t…

This phase 3 trial tests whether a once-weekly injection of TransCon hGH works as well as daily growth hormone injections in prepubertal children with growth hormone deficiency. About 150 children who have not received growth hormone treatment before will receive either the weekl…

This study tests a long-acting growth hormone called TransCon hGH, given as a once-weekly injection, in children with growth hormone deficiency who have already completed a prior TransCon trial. The goal is to see if the weekly shot remains safe and effective over the long term. …

This phase 3 trial investigates whether a once-weekly injection of lonapegsomatropin, a long-acting growth hormone, can safely and effectively treat adults with growth hormone deficiency. The study compares the weekly drug against a placebo and a standard daily growth hormone pro…

This study tested whether giving pregnant women a balanced energy and protein supplement (BEP) can improve birth weight and reduce complications like low birth weight and preterm birth. Over 3,300 women in Bangladesh were randomly assigned to receive either BEP or standard prenat…

This study tests an oral medication called LUM-201 in children with growth hormone deficiency who have not yet received treatment. The goal is to see if taking a pill daily can improve growth as effectively as standard daily injections. The trial also looks for a way to identify …

This study looked at the long-term safety of a medication called Chronocort in 76 people aged 16 and older with congenital adrenal hyperplasia (CAH), a condition where the body can't make enough cortisol. Researchers monitored for signs of over- or under-treatment, adrenal crises…

This study tested whether giving babies one egg daily along with teaching parents about responsive feeding, nutrition, and hygiene can improve growth and development. 600 infants in Haiti were split into three groups: standard care, eggs only, or eggs plus the parenting program. …

This study tested a new technique to help women with primary ovarian insufficiency (early ovarian failure) become pregnant. Doctors removed one ovary, treated small pieces of it with drugs to wake up dormant eggs, and then transplanted the tissue back into the patient. After moni…

This study tested a new growth hormone medicine, somapacitan, given once a week, against the standard daily Norditropin in 200 children with growth hormone deficiency. After one year, children receiving the weekly shot grew just as much in height as those on daily shots, with sim…

This study tested an oral drug called LUM-201 in 15 children with growth hormone deficiency who had already received daily injections for a year. The goal was to see if LUM-201 could maintain or improve growth over 12 months. The drug was given once daily by mouth, and researcher…

This Phase 3 trial tested a treatment called EryDex for people with ataxia telangiectasia (A-T), a rare genetic disease that affects movement and coordination. EryDex is a steroid (dexamethasone) packaged inside the patient's own red blood cells and given as an IV infusion every …

This study tested whether adding extra nutrient-rich foods to infants' diets can help them get enough energy and nutrients to prevent stunting. 192 infants in rural Zimbabwe received either standard fortified supplements or an enhanced mix including orange maize, beans, moringa, …

This study tested a new once-weekly growth hormone injection (somapacitan) against the standard daily growth hormone shot in 76 children with growth hormone deficiency who had never been treated before. The main goal was to see how well the weekly shot worked for height growth an…

This completed Phase 3 study tested somatropin, a synthetic growth hormone, in 33 Japanese children and adults with Prader-Willi syndrome. The goal was to see if it safely improves body composition by increasing lean body mass and reducing fat. Participants were divided into thre…

This study tested a new medicine, somapacitan, given once a week against the standard daily growth hormone shot (Norditropin®) in 110 Chinese children with growth hormone deficiency. The goal was to see if the weekly shot works as well as the daily one for helping children grow. …

This study tested whether trained community health workers visiting pregnant women at home could improve health for both mothers and children in a rural area of South Africa. The program focused on supporting women with HIV, depression, or alcohol use, and on improving child grow…

This study looked at whether growth hormone therapy can improve muscle strength, power, and body composition in short prepubertal boys, both those with growth hormone deficiency and those with idiopathic short stature. Thirty short boys received growth hormone injections for 12 m…

This study tested an experimental drug called AT-007 in 47 children aged 2 to 18 with Classic Galactosemia, a rare genetic disorder that makes it hard to break down a sugar called galactose. The goal was to see if the drug could improve behavior, daily living skills, and language…

This phase 2 trial tested a new drug called SPR001 in 24 adults with classic congenital adrenal hyperplasia (CAH), a genetic condition that disrupts hormone production. The study aimed to see if SPR001 is safe and can improve hormone control. Participants took multiple doses of t…

This completed trial tested a personalized program of physical activity, nutrition guidance, and education for 128 adults with Prader-Willi syndrome. Participants followed the program during a 5-week hospital stay, with the goal of stabilizing or reducing their body mass index (B…

This study tested a program called Babble Boot Camp for babies with classic galactosemia, a rare condition that often causes speech and language problems. The program started when babies were 2 to 24 months old and involved weekly online coaching for parents from a speech therapi…

This completed trial in Somalia tested whether giving families cash transfers, with or without extra nutrition education and additional cash, could prevent malnutrition in children and mothers. Over 3,300 families received monthly mobile cash for 6 months. Researchers measured wa…

Ataxia-telangiectasia is a rare, inherited disease that damages the nervous system, skin, and immune system, and it has no cure. Researchers are testing sirolimus, an immune-suppressing drug, in children under 17 with the condition. The six participants take sirolimus by mouth fo…

This phase 2 study tested whether pitolisant, a drug that promotes wakefulness, can safely reduce excessive daytime sleepiness in people with Prader-Willi syndrome. The trial enrolled 65 participants aged 6 to 65 and compared pitolisant to a placebo over 11 weeks, followed by an …

This study tested whether oxytocin nasal spray, sometimes called the 'love hormone,' can improve behavior and eating problems in adults with Prader-Willi syndrome. Fifty participants received either oxytocin or a placebo daily or every three days for 28 days. Researchers measured…

This study looked at whether adding nutrition and hygiene support to an existing farming program can reduce malnutrition in pregnant women and their children. About 1,200 pregnant women in Kenya took part, with half getting the extra nutrition help. The goal was to see if childre…

Children with growth hormone deficiency often need daily injections, which can be hard to keep up with. Researchers in Belgium and Luxembourg are asking families in the BELGROW registry to fill out a questionnaire about whether they would consider switching to long-acting growth …

This study follows nearly 600 people with Smith-Magenis syndrome (SMS), a rare genetic condition, to track how their health, behavior, and development change over time. Researchers will perform detailed medical exams, genetic tests, and surveys to better understand the syndrome's…

This study looked at people with low or no GnRH, a hormone that controls puberty and fertility. Researchers studied 111 adults and teens to understand how GnRH problems affect the body. The goal was to find new hormone patterns and genetic causes, not to test a treatment.

This study tests whether adding hands-on, simulation-based training to standard educational materials improves the caregiving skills of families with stunted children aged 1-3 years. Caregivers receive either a take-home module alone or the module plus guided practice sessions. T…

This study investigates why some girls with Turner syndrome find it hard to make friends, read emotions, and control their feelings. Researchers will compare 35 girls with Turner syndrome to 35 girls with isolated growth hormone deficiency, all aged 7 to 16. Through puzzles, memo…

This study looked at 112 people with known differences in their sex chromosomes (X and Y) to better understand how these variations affect health, especially infertility. Participants underwent physical exams, blood and urine tests, imaging, and sensory checks over about 5 days. …

This study looked at 90 children and teens (ages 7-18) taking antipsychotic medication to see how it affects their hormones, growth, and metabolism. Researchers measured prolactin levels and checked for links to sex hormones, metabolic health, and puberty development. The goal wa…

This completed study looked at how appetite-regulating hormones change in infants with Prader-Willi syndrome during the first four years of life. Researchers collected blood samples from 215 infants to understand why they switch from poor feeding to severe overeating and obesity.…

This completed study looked at newborn screening for congenital adrenal hyperplasia (CAH) in Italy. Researchers reviewed medical records of 29 infants diagnosed with classic CAH between 2006 and 2019 to see how accurate the screening was. The goal was to measure the screening's s…

This study looked at how a genetic test that checks 25 genes linked to hereditary cancers is used in clinics. Over 1,500 people with a personal or family history of cancer took part. Researchers collected blood samples and had participants fill out questionnaires over five years …

This completed study tested whether artificial intelligence (AI) can accurately estimate a child's height and weight just from photos. Researchers took pictures of 250 children aged 2 to 6 years old, both in clinics and at home. The AI's estimates were then compared to actual phy…

This study tested whether people with hypopituitarism (a condition where the pituitary gland doesn't work properly) have lower oxytocin levels compared to healthy individuals. Researchers gave participants a drug called exenatide (a GLP1 receptor agonist) to see if it could stimu…

This study looked at 500 children who had surgery for a rare brain tumor called craniopharyngioma. Researchers used MRI scans to grade how much the tumor damaged a key brain area (the hypothalamus). They found that more damage was linked to higher rates of growth hormone deficien…

This study reviewed medical records of 12 children with CHARGE syndrome who had cochlear implant surgery. Researchers looked at their ear bone structure and surgical challenges to find ways to make the operation safer. The goal is to help surgeons better prepare for the unique an…

This completed study looked at whether a blood test for a substance called ADMA can measure blood vessel health in children with growth hormone deficiency or those born small for their age. Researchers compared ADMA levels to ultrasound measurements of artery function in 23 child…

This study evaluates the long-term cognitive development of children who were exposed to dexamethasone (a steroid) while in the womb because they were at risk for congenital adrenal hyperplasia (CAH). The goal is to see if the drug causes any thinking or memory problems. Research…

This completed study involved 40 families of children with growth hormone deficiency. Researchers used data from connected injector devices and family surveys to develop a personalized growth hormone treatment profile (PGTP) report. The goal is to help doctors create more tailore…

This study followed 461 children whose mothers took a special nutritional drink before and during pregnancy. Researchers want to understand how parents' diet, lifestyle, and metabolism influence child growth, thinking skills, and overall well-being. The goal is to identify factor…

This completed study investigated why patients with Cytochrome P450 Oxidoreductase (POR) deficiency, a rare genetic condition, often develop high blood pressure and blood vessel damage. Researchers compared 51 participants (patients and healthy controls) using 24-hour blood press…

This study measured the biological (epigenetic) age of 10 children with growth hormone deficiency before and after 6 months of hormone therapy. Researchers wanted to see if treatment changes how old their cells appear. The goal is to better understand growth hormone's effects on …