Congenital hypogonadotropic hypogonadism

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 study tests an oral medication called LUM-201 for children with growth hormone deficiency who have never been treated before. The goal is to see if taking a pill every day for 12 months can improve growth rate compared to a placebo. The study involves 150 prepubertal childre…

This study tests whether kisspeptin, a natural hormone, can stimulate reproductive hormones and egg release in 36 men and women with idiopathic hypogonadotropic hypogonadism (IHH). Participants receive kisspeptin injections every 1-4 hours for two weeks. Researchers monitor hormo…

This study tests whether probiotics and prebiotics can safely help control appetite and weight gain in 60 children with Prader-Willi syndrome, a rare genetic condition that causes severe obesity. Researchers will measure changes in body mass index, body fat, and gut bacteria over…

This study tests a new growth hormone injection (GB06) in 192 children aged 3 to 11 with growth hormone deficiency, a condition that causes slow growth. The treatment is given daily for 52 weeks to see if it helps children grow taller at a similar rate to an existing approved hor…

This early-stage trial tests an experimental drug called CSTI-500 in 12 people aged 13 to 50 with Prader-Willi syndrome, a genetic condition that causes constant hunger and behavioral issues. The study aims to see if the drug is safe and can reduce excessive eating behaviors. Par…

This study tests an experimental drug called mibavademab in people with a rare form of obesity caused by a faulty leptin gene. The drug aims to help control hunger and body weight. Only 4 participants will be enrolled to see how well it works and if it is safe.

This study tests a 16-week inclusive exercise program called PACE for adults with intellectual disability. Participants will attend fitness classes, meet with coaches, and use a web dashboard to set goals. The trial includes 376 people and will measure daily steps and moderate-to…

This phase 3 trial tests whether a daily injection of setmelanotide can help people aged 4 and older with hypothalamic obesity lose weight and feel less hungry. Participants will receive either the drug or a placebo for 26 weeks. The study aims to see if the treatment leads to me…

This study tests a weekly injection called RM-718 in healthy people with obesity and in patients with obesity caused by problems in the MC4R pathway, including hypothalamic obesity and Prader-Willi syndrome. The main goal is to check the drug's safety and how the body processes i…

This study tests tirzepatide, a weight loss medication, in 36 young adults aged 18-26 with obesity from Prader-Willi syndrome, hypothalamic obesity, or general causes. Participants take the drug for 48 weeks to see how much weight they lose and how their health changes. The goal …

This study is tracking 2,600 Chinese children with growth disorders who are receiving a long-acting growth hormone injection. The goal is to see how well it works and how safe it is over the long term in real-world settings. Researchers will measure changes in height and look for…

This study tests a group program to help teens (ages 13-17.5) with Prader-Willi Syndrome and their families learn practical ways to handle irritability, meltdowns, and anxiety. Ten participants will attend weekly 90-minute sessions. The goal is to see if the program improves emot…

This Phase 3 trial tests whether pitolisant can reduce excessive daytime sleepiness in people aged 6 and older with Prader-Willi syndrome. About 134 participants will receive either pitolisant or a placebo, and researchers will also look at effects on behavior and appetite. The s…

This study tests whether bright light therapy can help reduce excessive daytime sleepiness in people with Prader-Willi syndrome. About 50 participants will receive either bright light or a dim placebo light. The goal is to see if the therapy improves alertness, mood, and behavior…

This study tests whether a noninvasive technique called transcranial magnetic stimulation (TMS) can change brain activity related to hunger and fullness in people with Prader-Willi syndrome. Researchers will stimulate a part of the brain called the cerebellum and measure changes …

This study looks at how things in your environment—like pollution, chemicals, diet, and sleep—might affect your hormones and reproductive health. Researchers will follow 300 people aged 8 and older who have conditions like low or high hormone levels, early or late puberty, or inf…

This study aims to uncover the genetic causes of pituitary and hypothalamic tumors in children. Researchers will collect blood and tumor samples from up to 2,000 participants to analyze DNA and look for inherited patterns. The study also trains doctors and tests new MRI technique…

This study looks at adults who had a traumatic brain injury at least a year ago. Researchers want to see whether those with growth hormone deficiency have worse quality of life, fatigue, mood, and sleep than those without it. Participants complete questionnaires and a test for gr…

This study is watching for side effects in 50 children in India who are prescribed somatrogon, a long-acting growth hormone injection for growth hormone deficiency. The goal is to see how safe the drug is during routine care over 3 years. Participants do not have to visit the cli…

This study aims to understand how reproductive disorders, such as delayed or early puberty, are inherited. Researchers will collect blood samples and medical histories from 850 people with these conditions and their family members. No treatment is provided; the goal is to identif…

This study tracks the long-term safety and effectiveness of the growth hormone treatment Growtropin-II in children with short stature. It includes up to 5,000 children with growth hormone deficiency, idiopathic short stature, Turner syndrome, or those born small for gestational a…

This study follows 200 children with growth hormone deficiency for three years. Researchers will measure body composition, including muscle and fat, in kids taking either daily or long-acting growth hormone. The goal is to understand why some children gain weight on long-acting f…

This study looks at how to reduce the long and frustrating journey to a diagnosis for people with developmental abnormalities. Researchers will review past cases, collect new blood or skin samples, and use advanced genetic testing. The goal is to understand why some people remain…

This study follows 900 children with growth hormone deficiency who are already taking SKYTROFA (lonapegsomatropin). Researchers will track side effects and measure how close children get to normal adult height. The goal is to see how well the drug works in everyday medical practi…

This study looks at DNA methylation patterns (chemical tags on DNA) in fetuses with rare genetic diseases. Researchers will analyze DNA from amniotic fluid and tissue samples to create reference signatures. The goal is to improve diagnosis of these conditions before birth. The st…

This study is testing how growth hormone and liraglutide (a diabetes drug) affect appetite, energy use, and blood sugar in healthy adults and those with growth hormone deficiency. Forty participants will receive each treatment or placebo for 21 days, with blood tests and body mea…

This study tests a new, radiation-free ultrasound technology called REMS to measure bone density in children aged 5 to 18 who have conditions that weaken bones, such as brittle bone disease or osteoporosis. The goal is to see if REMS can work as well as the standard X-ray method …

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 follows 500 children with growth hormone deficiency who are already taking lonapegsomatropin to check for long-term safety risks like cancer or diabetes. It is a non-interventional study, meaning no new treatment is given—just observation under real-world conditions in…

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 is gathering medical and educational information from up to 4,000 people with chromosome 18 abnormalities and their families. The goal is to better understand these rare conditions and provide better resources and care. Participants must be at least one year old and in…