Eunice Kennedy Shriver National Institute Of Child Health And Human Development (nichd)

This study looks at how well hormone replacement therapy (HRT) works for teenage girls with premature ovarian insufficiency (POI), a condition where the ovaries stop working before age 40. About 185 girls aged 11-19 with POI will receive estrogen patches and progesterone pills, a…

This study looks at whether a soft, wearable sensor can measure oxygen levels in the brain and body of children with sleep apnea as well as standard sleep lab tests do. About 120 children aged 3 to 12, with and without sleep apnea, will take part. The goal is to develop a simpler…

This study follows up to 150 people with MEHMO syndrome or related disorders to learn how the disease progresses. Researchers will collect blood, urine, spinal fluid, and skin samples, along with imaging and health checks. The goal is to find biological markers that could help di…

This study aims to learn more about Batten disease (CLN3), a rare and deadly genetic disorder that affects the brain and nervous system. Researchers will collect samples like blood, spinal fluid, and skin from up to 300 people with CLN3 and their family members. The goal is to fi…

This study aims to find the genes that cause Ollier disease and Maffucci syndrome, rare conditions that lead to cartilage tumors and blood vessel problems. Researchers will study 100 people aged 2 and older with these disorders using blood tests, scans, and genetic analysis. Part…

This study aims to learn more about endocrine and metabolic disorders in children by examining their genes. Researchers will evaluate up to 15,000 children aged 3 months to 18 years with known or suspected conditions, along with their family members. The goal is to identify genet…

This study aims to gather information about rare skeletal disorders that are not well understood. Researchers will collect medical records, blood and tissue samples, and imaging from 100 participants aged 2 months and older, including healthy family members. The goal is to find g…

This study aims to find genes that may cause infertility in people with non-obstructive azoospermia (low or no sperm) or primary ovarian insufficiency (early menopause). About 500 adults will provide a saliva sample at home. No treatments are tested; the goal is to better underst…

This study follows 600 people aged 10 to 42 who were cured of Cushing disease before age 21. Researchers want to learn about long-term health problems caused by high cortisol levels during childhood. Participants complete surveys and have check-ups every 5 years to track their ph…

This study aims to learn more about the health effects of having too much androgen (male-like hormones) due to genetic conditions like congenital adrenal hyperplasia (CAH) and familial male-limited precocious puberty (FMPP). Researchers will observe up to 3,000 participants of al…

This study aims to develop better methods for finding and understanding pheochromocytoma and paraganglioma, rare tumors that can cause severe high blood pressure, stroke, or heart attack. Researchers will use blood tests, advanced imaging, and genetic analysis in up to 3,000 part…

This study follows up to 900 people with Niemann-Pick disease type C (NPC), a rare genetic disorder that damages the nervous system. Researchers use blood tests, spinal taps, eye exams, and brain scans every six months to find markers that show how the disease progresses. The goa…

This study looks at why some people with conditions like Turner Syndrome or galactosemia have trouble getting pregnant, and whether freezing their ovarian tissue can help them have a child in the future. Up to 200 participants aged 2 to 35 will have a small piece of ovarian tissu…

This study aims to create a large genetic database of people with Turner syndrome (TS), a rare condition where a person is missing all or part of an X chromosome. Researchers want to understand why some women with TS have normal ovaries and can have children while others cannot. …

This study looks at how the brain responds when watching others move, which is key for early social skills. Researchers will use brain scans (EEG/fNIRS) on healthy adults and infants, as well as infants at risk for developmental delays. The goal is to understand normal developmen…

This study aims to learn more about Smith-Lemli-Opitz syndrome and other inherited cholesterol disorders. Researchers will observe up to 250 people of any age who have or are suspected to have these conditions, along with their relatives. Participants undergo regular checkups, su…

This study aims to learn more about lymphatic anomalies—problems with the body's lymph system that can cause pain, swelling, and immune issues. Researchers will follow up to 1,200 people of any age with these conditions, plus their healthy family members, for many years. Particip…

This study collects and stores ovarian tissue from females aged 4 to 35 who choose to freeze a sample before cancer treatment that could harm their fertility. Researchers will use a small portion of the tissue (no more than 20%) to study how ovaries work and what happens to ferti…

This study looks at facial features of males aged 2 to 40 with creatine transporter deficiency (CTD), a genetic condition that causes intellectual disability, seizures, and behavior issues. Researchers will examine photos of participants' faces to find shared traits that could he…

This study looks at children with pituitary or hypothalamic tumors to find genetic causes and improve diagnosis. Researchers will collect blood and tumor samples for genetic testing and test new MRI techniques. Up to 2000 participants are needed. The goal is to learn more about t…

This study is creating the first large database for Niemann-Pick type C (NPC), a rare disease that affects the brain, liver, and spleen. Researchers will collect a one-time blood sample and review medical records from 100 people with NPC of any age. The goal is to link genetic ma…

This study collects medical information, blood, saliva, and tissue samples from up to 11,000 children, teens, and adults with known or suspected gynecologic conditions. The goal is to create a large database to help doctors and researchers better understand these conditions, how …

This study follows 650 people with Androgen Insensitivity Syndrome (AIS), a rare condition where the body cannot respond to male hormones. Researchers will track health over time using blood tests, scans, and questionnaires to understand risks like bone health, heart health, and …

This study aims to understand how genes and the environment shape children's eating behavior and health over time. Researchers will follow 1,500 children ages 8-17 for up to 6 years, using wrist monitors, smartphone surveys, and yearly checkups that include blood tests, X-rays, a…