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

This study looks at whether hormone replacement therapy (HRT) can help adolescent 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, …

This study looks at a new wearable device that measures oxygen levels in the brain and body of children with obstructive sleep apnea (OSA). Researchers want to see if this device works as well as the standard sleep study tests. About 120 children aged 3 to 12, with and without OS…

This study follows people with androgen insensitivity syndrome (AIS) over many years to learn about their overall health, including bone strength, heart health, hormone levels, and tumor risks. Up to 650 participants of all ages will have regular check-ups, scans, and lab tests, …

This study aims to learn more about hormone and metabolism disorders in children by examining their genes. Up to 15,000 children aged 3 months to 18 years with known or suspected endocrine or metabolic conditions, along with their family members, will participate. Researchers wil…

This study is for people with Batten disease (CLN3) and their family members. Researchers want to collect samples like blood, spinal fluid, and skin, and track symptoms over time. The goal is to find biological markers that can be used to measure the effects of future treatments.…

This study collects and stores ovarian tissue from females aged 4 to 35 who choose to freeze it before cancer treatment. Researchers will use a small portion of the tissue to learn how ovaries work and how they are affected by treatment. Participants also fill out yearly surveys …

This study aims to develop better methods for diagnosing and locating pheochromocytoma and paraganglioma tumors, which can cause severe high blood pressure and life-threatening complications. Researchers will use advanced blood tests, genetic testing, and imaging scans in up to 3…

This study is creating the first large database of people with Niemann-Pick type C (NPC), a rare disease that affects the brain and other organs. Researchers will collect blood samples and medical records from 100 participants of any age to look for links between genes and sympto…

This study aims to find common facial features in males with creatine transporter deficiency (CTD), a genetic condition that causes intellectual disability, seizures, and behavioral issues. Researchers will review photos and medical data from up to 19 participants aged 2 to 40. T…

This study aims to gather medical information, blood, saliva, and tissue samples from up to 11,000 children, teens, and adults with known or suspected gynecologic conditions. Researchers will use this data to better understand how these conditions develop and vary. No experimenta…

This study aims to learn more about rare skeletal disorders by collecting medical records, blood and tissue samples, and imaging from 100 participants aged 2 months and older. Participants may join in person or remotely. The goal is to identify genetic causes and track how these …

This study follows up to 150 people with MEHMO syndrome or related disorders to track how the disease progresses over time. Researchers will collect medical history, imaging, and lab samples to identify biological markers. The goal is to better understand these conditions and dev…

This study aims to learn more about the health problems caused by too much androgen (male-like hormones) in people with genetic conditions like congenital adrenal hyperplasia (CAH) and familial male-limited precocious puberty (FMPP). Researchers will observe up to 3,000 participa…

This study aims to find the genetic causes of Ollier disease and Maffucci syndrome, rare conditions that cause cartilage tumors and blood vessel problems. Researchers will study 100 people aged 2 and older with these disorders. Participants will undergo imaging scans and provide …

This study follows people who were cured of Cushing disease before age 21 to understand the lasting health effects of high cortisol levels during childhood. Participants, aged 10 to 42, will complete surveys and have check-ups every 5 years, including blood tests, bone scans, and…

This study aims to find genes that may cause infertility in men and women when the reason is unknown. About 500 adults with non-obstructive azoospermia (low or no sperm) or primary ovarian insufficiency (early ovary failure) will provide a saliva sample for genetic testing. No tr…

This study looks at how the brain reacts when watching others move, which is important for early social skills. Researchers will measure brain activity in healthy infants, at-risk infants, and adults using special caps. The goal is to learn how this brain function develops and wh…

This study aims to create a large genetic database of people with Turner syndrome, a rare condition where a person is missing part of an X chromosome. Researchers want to learn why some women with Turner syndrome can have children while others cannot. Participants of any age with…

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 may join. The goal is to learn more about the…

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 follows 1,500 children ages 8-17 over several years to understand how genes, sleep, mood, and thinking skills affect eating behavior and health. Participants wear a wrist monitor, answer smartphone questions, and have yearly check-ups including body measurements, blood…

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 learn more about Smith-Lemli-Opitz syndrome and other inherited cholesterol disorders by observing up to 250 participants over several years. People of any age with these conditions, as well as their relatives, can join. No treatment is given, but the informati…