Hereditary endocrine growth disease

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 is testing a device called ExAblate 4000 that uses focused ultrasound waves to treat non-cancerous brain tumors in children and young adults. The goal is to see if the treatment is safe and can shrink tumors without open surgery. About 20 participants will be enrolled,…

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 phase 3 trial compares a once-weekly growth hormone injection (lonapegsomatropin) to a daily one (somatropin) in 186 prepubertal children with growth failure due to Turner syndrome, SHOX deficiency, being small for gestational age, or idiopathic short stature. The goal is to…

This study tests an oral drug called infigratinib in infants and children under 3 years old with achondroplasia, the most common form of dwarfism. The goal is to see if it safely improves growth and body proportions. The trial has several phases to find the right dose and then co…

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 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 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 early-stage trial tests a drug called atipeksen for people with Ataxia-Telangiectasia (A-T), a rare genetic disease that affects movement and coordination. The drug is designed to fix a specific genetic error in the ATM gene and is given via spinal injection. The study will …

This study tests a program that gives food supplements to pregnant women, new mothers, and their babies, along with advice on healthy eating, exercise, and infant feeding. The goal is to reduce both maternal obesity and child stunting in rural Indigenous communities in Guatemala.…

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 vosoritide, a protein that stimulates bone growth, in 30 children with Noonan syndrome who are not growing well despite growth hormone treatment. The goal is to see if vosoritide can safely increase their growth rate over six months. Participants will receive one…

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 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 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 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 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 program provides an experimental drug, levacetylleucine, to people with Ataxia-Telangiectasia (A-T), a rare genetic disease that affects movement and immunity. It is for patients who cannot join clinical trials and have no other good treatment options. The goal is to offer p…

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 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 new drug called TCC1727 combined with other medicines (benmelstobart, olaparib, or topotecan) in people with advanced solid tumors, including lung, stomach, endometrial cancer, and melanoma. The goal is to find the safest dose and see if the combination helps s…

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 whether a probiotic called VE818 can reduce harmful bacteria in the gut and improve gut health in pregnant women. About 144 pregnant women in Bangladesh, Pakistan, Zambia, and Burkina Faso will take part. They will first receive an antibiotic (vancomycin) and the…

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 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 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 looks at two ways of taking progesterone for teens with Turner syndrome who are on hormone replacement therapy. One group takes progesterone for 12 days each month, the other takes it every day. Researchers will track bleeding patterns and how the teens feel, to see wh…

This study tests whether a new drug called IBI311 works better than standard steroid therapy for people with active moderate to severe thyroid eye disease. 64 participants will receive either IBI311 or steroids, and researchers will measure improvements in eye bulging, inflammati…

This study tests a drug called IBI311 in 50 people with inactive moderate-to-severe thyroid eye disease, a condition that can cause bulging eyes and double vision. IBI311 is an antibody that blocks a protein involved in the disease. The goal is to see if it improves eye symptoms …

This study tests a two-step treatment for people with moderate-to-severe thyroid eye disease (TAO) that is still active. First, patients receive high-dose steroids, then a newer drug called tetuzumab (IBI311) that blocks a growth factor receptor. The goal is to reduce bulging eye…

This study compares two types of nutrient supplements—small-quantity and medium-quantity—to see if the smaller one works just as well at preventing undernutrition in children aged 6 to 12 months. About 980 infants in Pakistan will receive one of the two supplements daily for 6 mo…

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 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 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 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 aims to understand the genetic and biological causes of Proteus syndrome, a rare condition causing abnormal growth of bones, skin, and other tissues. Researchers will follow up to 1,500 participants over time, using medical exams, imaging, and blood tests to track how …

This study at the National Institutes of Health is looking at 1,000 adults with known or suspected hormone gland (endocrine) disorders. The goal is to better understand these conditions and help train doctors. Participants may receive tests, treatments, or surgery as part of thei…

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 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 enrolls up to 15,000 children with known or suspected endocrine or metabolic disorders, along with their family members. Researchers will collect medical records, blood, saliva, and other samples to identify genetic changes linked to these conditions. The goal is to be…

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 whether freezing ovarian tissue can help preserve fertility in people aged 2-21 with conditions like Turner syndrome, galactosemia, or premature ovarian insufficiency. Participants may have surgery to remove and freeze a gonad, with a small piece used for rese…

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 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 is observing 400 people aged 12 and older who have noncirrhotic portal hypertension (NCPH) or are at risk for it. NCPH is a liver condition that increases blood pressure in the liver's blood vessels without causing cirrhosis, and often has no early symptoms. Researcher…

This study aims to create a large genetic database of people with Turner syndrome, a rare condition where a person is missing all or part of an X chromosome. Researchers want to compare the genes of women with Turner syndrome who are fertile with those who are not. Up to 500 part…

This study enrolls adults with known or suspected endocrine (hormone gland) disorders, such as diabetes or thyroid disease, to help researchers learn more about these conditions. Participants will undergo medical exams, blood and imaging tests, and possibly genetic testing. The m…

This study is checking if a 7-year program by World Vision helps improve nutrition, gender equality, and health access for women, teenage girls, and young children in rural areas of Bangladesh, Kenya, and Tanzania. About 13,500 people will take part, including women, their partne…

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 aims to find genetic mutations in the brain that cause drug-resistant epilepsy in children. Researchers will compare DNA from blood and brain tissue, including samples from special electrodes placed in the brain. The goal is to better understand the root causes of thes…

This study is testing a tool called B-COMPASS that uses a 22-question survey to predict whether people will follow their prescribed treatments. Researchers will enroll 3100 adults with cardiovascular, endocrine, immune, nerve, cancer, or rare diseases across Europe. The goal is t…

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 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 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 looking at the genes of 350 children born with permanent congenital hypothyroidism, even though their thyroid gland is in the right place. Researchers will use advanced genetic sequencing to find DNA changes that might explain the condition. The goal is to better un…

This study follows 60 girls and women with classic galactosemia, a rare genetic condition that affects how the body processes sugar. Researchers want to understand why many develop early ovarian failure and how puberty progresses. By tracking hormone levels and growth, they hope …

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 tests a mobile health app called First Diet to help new mothers in Pakistan improve breastfeeding and feeding practices for their infants. Researchers will enroll 300 pregnant women who have smartphones and follow them for one year after birth. The goal is to see if th…

This global registry follows 500 children and teens with severe primary IGF-1 deficiency who are taking or will take Increlex® (mecasermin). The goal is to monitor long-term safety and side effects over at least 5 years after treatment ends. It is an observational study, meaning …

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 aims to understand why people with Turner syndrome often lose their hearing. Researchers will look at genetic and epigenetic markers in 150 adults aged 18-60. Participants will have hearing, balance, blood, and imaging tests. The goal is to find new ways to treat or de…

This study follows 93 women with Turner syndrome who wanted to become parents. Researchers will track how many succeeded through natural pregnancy, egg donation, or adoption. The goal is to understand the real-world chances of parenthood for these women.

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 follows 832 children from remote farming communities in Pakistan to see how their diet and nutrition affect their growth and development up to age 5. Researchers will measure body mass index, head circumference, and developmental skills using questionnaires. The goal i…

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…

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 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 looks at whether measuring a different thyroid hormone (fT3) or the ratio of two hormones (fT3/fT4) can give a clearer picture of thyroid health in people taking levothyroxine. It includes 500 adults with various types of hypothyroidism who are on a stable dose of the …