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

This study looks at how hormone replacement therapy (HRT) affects adolescents aged 11-19 with premature ovarian insufficiency (POI), a condition where ovaries stop working before age 40. Participants receive estrogen patches and progesterone pills over 2 years, with regular check…

This study is testing a wearable sensor that measures oxygen levels in the brain and limbs of children with and without obstructive sleep apnea (OSA). The sensor, called near-infrared spectroscopy (NIRS), is compared to standard sleep study techniques. Researchers hope it could l…

This study follows 1,500 children ages 8 to 17 over several years to learn how genes, sleep, mood, and environment affect eating behavior and overall health. Participants wear wrist monitors, answer smartphone surveys, and provide samples like blood and stool. The goal is to iden…

This study aims to find biological markers that can track the progression of Niemann-Pick type C (NPC), a rare genetic disorder that damages the nervous system. Researchers will evaluate 900 patients of any age through regular checkups, spinal taps, eye exams, and brain scans. Th…

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 learn more about rare skeletal disorders by collecting medical records, blood samples, and genetic data from 100 participants. People with known or suspected bone conditions, as well as their healthy family members, can join either remotely or in person. The go…

This study follows 650 people aged 8 to 99 with androgen insensitivity syndrome (AIS) to better understand their long-term health. Researchers will track hormones, bone density, heart health, metabolism, and tumor risk through regular check-ups and scans. No treatments are being …

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 also gather medical data and annual surveys for up to 30 years. The goal is to build a national database…

This observational study follows 150 people with MEHMO syndrome or related conditions to better understand how the disease progresses. Researchers will collect medical history, imaging, and lab samples to find biological markers that could help monitor the disease. No treatment i…

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 natural history study aims to collect data from 1,200 people with lymphatic anomalies—rare conditions affecting the body's lymph system—over many years. Researchers will track symptoms, perform genetic testing, and gather biospecimens to better understand why these condition…

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 is creating the first large database for Niemann-Pick type C (NPC), a rare disease that damages the brain, liver, and spleen. Researchers will collect blood samples and medical records from 100 people with NPC to link their genes with their symptoms. The goal is to und…

This study aims to improve how doctors find and understand pheochromocytomas and paragangliomas, rare tumors that can cause dangerous high blood pressure. Researchers will use advanced imaging scans and genetic testing in up to 3,000 participants to learn more about these tumors.…

This study looks at the long-term health of people who were cured of Cushing disease before age 21. Researchers want to understand how past high cortisol levels affect the body and mind years later. Participants will complete surveys and have check-ups every 5 years. The goal is …

This study aims to find the genetic causes of Ollier disease and Maffucci syndrome, rare disorders that cause cartilage tumors and increase cancer risk. Researchers will study 100 people aged 2 and older using blood tests, scans, and genetic sequencing. Participants will stay at …

This natural history study is observing up to 250 people with Smith-Lemli-Opitz syndrome and related cholesterol disorders, as well as their relatives. Researchers will track symptoms, development, and lab results over several years to find better ways to measure disease progress…

This study looks at facial features of males aged 2 to 40 with creatine transporter deficiency (CTD), a genetic disorder that causes intellectual disability, seizures, and behavioral issues. Researchers will examine photos of participants to see if they share common facial traits…

This observational study looks at how the brain responds when watching others perform actions, focusing on the mirror neuron system. Researchers will measure brain activity in healthy adults and infants, including those at risk for developmental delays, using EEG and fNIRS. The g…

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 is collecting medical data, 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 better understand these conditions, including disorders of sex developm…

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). Researchers will collect saliva samples from 500 adults to look for genetic differences. No new treatments are…

This study follows 300 people with CLN3 Batten disease, a rare genetic disorder that causes vision loss, seizures, and decline in thinking and movement. Researchers collect samples like blood and spinal fluid to find biological markers that could be used in future treatment trial…