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

This study is testing hormone replacement therapy (HRT) in adolescent girls aged 11-19 who have premature ovarian insufficiency, a condition causing early menopause. Researchers want to find the best doses and methods to improve bone strength, heart health, and overall well-being…

This study aims to see if freezing and storing reproductive tissue (ovaries or testes) can help young people with certain genetic conditions or early menopause have biological children in the future. Researchers are enrolling up to 200 participants, aged 2 to 35, who have conditi…

This study is testing a soft, wearable headband that measures oxygen levels in a child's brain during sleep. Researchers want to see if this comfortable device works as well as the traditional, more cumbersome sleep study equipment for detecting sleep apnea. They are enrolling 12…

This study aims to better understand Smith-Lemli-Opitz syndrome and related genetic disorders that affect cholesterol production. Researchers will observe 250 participants with these conditions over several years, collecting health information and biological samples. The goal is …

This study aims to understand how Niemann-Pick Type C (NPC) disease progresses over time. Researchers are observing 900 people with NPC to identify specific tests or measurements that could be used to tell if a future treatment is working. The study involves regular check-ups, sc…

This study aims to identify genetic causes of infertility in men and women when the reason is unknown. Researchers will collect saliva or blood samples from 500 adults with specific fertility conditions to analyze their DNA. The goal is to find genetic patterns that might explain…

This study aims to gather information about rare skeletal disorders to better understand their causes and how they develop over time. Researchers are enrolling people aged 2 months and older who have known or suspected bone conditions, as well as healthy family members. Participa…

This study aims to gather health information over time from a large group of children and teenagers with various gynecologic conditions. Researchers will collect medical data, genetic samples, and optional survey responses to build a comprehensive database. The goal is to improve…

This study aims to understand the genetic causes of tumors in the pituitary gland and related brain areas. Researchers will collect blood and tissue samples from up to 2,000 patients and their family members to look for inherited patterns and genetic markers. The goal is to gathe…

This study aims to better understand MEHMO syndrome, a rare genetic disorder causing intellectual disability, seizures, and other serious health problems. Researchers will observe 150 participants, including affected individuals and their family members, to track symptoms over ti…

This study aims to understand how babies' brains develop when they watch others move, and whether differences in this brain activity might be an early sign of developmental delays. Researchers will use safe, cap-based sensors to measure brain waves and blood flow in infants aged …

This study aims to find out if boys with a rare genetic brain disorder called creatine transporter deficiency (CTD) share similar facial features. Researchers will analyze photos of 19 males with CTD, aged 2 to 40, who are already part of a related NIH study. The goal is to ident…

This study aims to understand the long-term health effects on people who were cured of Cushing disease as children or teens. Researchers will follow up to 600 participants for up to 20 years after their cure, checking for lasting issues with weight, bone health, metabolism, and m…

This study aims to collect information and biological samples from people with Batten disease (CLN3) and their family members. The goal is to identify measurable signs, or 'markers,' of the disease that can be used to test future treatments in clinical trials. Researchers will fo…

This study aims to understand the long-term health of people with Androgen Insensitivity Syndrome (AIS), a rare condition where the body doesn't respond properly to male hormones. Researchers will observe up to 650 participants over many years, tracking bone health, heart health,…

This study aims to gather detailed information over time from people with genetic conditions that cause the body to produce too many male-like hormones (androgens). It will follow up to 3,000 participants, including children and adults, to better understand how these conditions a…

This study aims to discover the genetic causes of rare disorders like Ollier disease and Maffucci syndrome, which cause cartilage tumors and blood vessel problems. Researchers will enroll up to 100 participants for a 5-day visit involving scans and genetic testing to build a deta…

This study aims to better understand and diagnose rare hormone and metabolism disorders in children. Researchers will evaluate up to 15,000 children and their family members, using medical exams, imaging, and genetic testing to learn how these conditions develop and are inherited…

This study aims to create a bank of ovarian tissue and a national database to better understand how cancer treatments affect fertility. It enrolls girls and women (ages 4-35) who are freezing ovarian tissue before starting cancer therapy. Researchers will store a small portion of…

This study aims to create the first and largest database for Niemann-Pick Type C (NPC), a rare and progressive brain disease with no cure. Researchers will collect genetic information and medical history from 100 people with NPC to understand why the disease affects people so dif…

This study aims to learn more about lymphatic anomalies—problems with the body's fluid drainage and immune system network. Researchers will follow 1200 people, including patients and their family members, over many years to track how symptoms develop and collect genetic samples. …

This study aims to find better ways to detect and understand rare tumors called pheochromocytomas. These tumors release chemicals that cause severe high blood pressure and can lead to dangerous complications during surgery or childbirth. Researchers will enroll up to 3,000 partic…

This long-term study aims to understand why some children develop unhealthy eating patterns and weight gain by following 1,500 kids aged 8-17 for up to six years. Researchers will track factors like sleep, mood, genetics, and brain activity to see how they influence eating behavi…