Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

This study tests if a new growth hormone medicine (somapacitan) given once a week works as well as the standard daily growth hormone (Norditropin) for children who are very short due to being born small, or having Turner syndrome, Noonan syndrome, or unknown causes. About 412 chi…

This study follows about 200 people with Prader-Willi syndrome who are taking or starting VYKAT XR. Researchers will track side effects and how the drug affects their health over time. The goal is to gather more safety information, not to test if the drug cures the condition.

This study tests a new drug called DAY101 (tovorafenib) against standard chemotherapy for children and young adults with a type of brain tumor called low-grade glioma that has a specific gene change (RAF alteration). The goal is to see if the new drug works better at shrinking tu…

This study compares a single-stage surgery using implants coated with an antibiotic-loaded hydrogel to the standard two-stage surgery for treating chronic hip prosthesis infections. The single-stage approach aims to remove the infected implant and place a new one in the same oper…

This early-phase study tests a new drug called ERAS-601, alone or with other cancer treatments, in adults with advanced solid tumors that have not responded to standard therapies. The main goals are to find safe doses and check for side effects. About 90 participants will take pa…

This study tests a drug called vosoritide in 56 children with short stature caused by certain genetic conditions. The drug targets the growth plate to help children grow faster. Participants are observed for 6 months, then treated with daily injections for 12 months to check safe…

This phase 3 trial is testing the safety of pitolisant in 150 people with Prader-Willi syndrome who have already taken the drug in a previous study. Participants will receive pitolisant tablets and be monitored for side effects. The goal is to see if pitolisant is safe for long-t…

This study tests a stem cell transplant using a milder chemotherapy-like regimen to treat children and young adults (up to age 28) with various immune system disorders. The goal is to help the donor stem cells settle in the body with fewer side effects. The study involves 20 part…

This phase 2 trial tests setmelanotide (Imcivree), a daily injection, in 18 people aged 6 to 65 with Prader-Willi syndrome who have obesity. The study will check if the drug is safe and helps reduce body weight and hunger over 52 weeks.

This study tests a new approach for people aged 5 to 45 with primary immune deficiencies and end-stage lung disease. Participants receive a double lung transplant followed by a stem cell transplant from the same donor. The goal is to see if this combined procedure is safe and can…

This study tests the long-term safety of a nasal spray called carbetocin for people with Prader-Willi syndrome who experience severe, constant hunger (hyperphagia). About 160 participants who completed a previous study will receive the spray three times daily. The goal is to see …

This study tests a new growth hormone medicine called somapacitan, given once a week, in 47 children who are very short due to being born small for gestational age, or having Turner syndrome, Noonan syndrome, or idiopathic short stature. The main goal is to see if it is safe and …

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

This phase 3 study tests a device that gently stimulates the vagus nerve through the skin (tVNS) to see if it can safely reduce temper outbursts in people with Prader-Willi syndrome. About 102 participants aged 10 to 40 will use either continuous or intermittent stimulation. The …

This study tests a program called FACE-Rare, designed to support family caregivers of children with rare, life-limiting diseases. The program includes three sessions to help families prepare for future medical decisions and improve their quality of life. Researchers will compare …

This Phase 3 trial tests a nasal spray called carbetocin to reduce the intense, constant hunger (hyperphagia) in people with Prader-Willi syndrome. The study involves 170 participants aged 5 to 30 and lasts 12 weeks. Caregivers will rate changes in hunger-related behaviors using …

This study tracks 80 patients with brain tumors (metastases or meningiomas) who receive stereotactic radiosurgery. Researchers use memory tests and quality-of-life questionnaires before treatment and every 3 months for a year to see if and how brain function changes. By comparing…

This study aims to uncover the genetic roots of aortic aneurysms and valve disease by analyzing tissue and blood samples from 3,000 participants. Researchers will look for new disease-causing genes and factors that affect disease severity. The goal is to build a biorepository to …

This study aims to find the genetic cause of PHACE syndrome, a rare condition. Researchers will analyze DNA from 50 people diagnosed with PHACE. Participants must also have an eye exam. The goal is to identify genes that may be responsible for the syndrome, which could lead to be…

This study is a registry that will follow up to 221 children with Noonan Syndrome who are already taking or starting Norditropin® for short stature. Researchers will collect information on growth, side effects, and quality of life over time. No new treatment is being tested—the g…