Multiple congenital anomalies/dysmorphic syndrome

This study tests a stem cell transplant method for people with acquired or inherited bone marrow failure. Donor stem cells are specially processed to remove certain immune cells, which may lower the risk of graft rejection and graft-versus-host disease. The goal is to see if this…

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 pilot study tests a fludarabine-based drug regimen to prepare children with bone marrow failure syndromes for a bone marrow transplant from a matched sibling donor. The goal is to help the donor cells successfully take root while reducing serious side effects. The study incl…

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 tests a custom-made drug for one child with a rare, severe brain disease called CONDBA, caused by a specific gene mutation. The drug aims to slow or stop brain damage by targeting the faulty gene. Researchers will track changes in movement, coordination, and quality of…

This study looks at whether adding rubber bands (elastics) to standard clear plastic retainers helps keep an underbite correction stable after orthodontic treatment. Researchers want to see if this simple addition can reduce the need for future jaw surgery. The trial involves 42 …

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 study follows 14 people with Fanconi Anemia who previously received RP-L102 gene therapy. Researchers will monitor their health for years to see if the treatment safely improves blood counts and reduces the need for a bone marrow transplant. The goal is to understand long-te…

This study follows 9 people with Fanconi Anemia who already received a gene therapy that adds a working FANCA gene to their blood stem cells. Researchers will check their health and blood counts for 15 years to see if the treatment remains safe and keeps working. No new treatment…

This study tests three ways emergency responders help children breathe: a bag-mask, a throat tube, or a breathing tube. It includes 3,000 children under 18 with cardiac arrest, severe injury, or breathing failure. The goal is to see which method leads to more days alive and out o…

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 whether adding the drug abatacept to standard care can prevent graft-versus-host disease (GVHD) in children receiving stem cell transplants from unrelated donors. GVHD occurs when donor cells attack the patient's body, causing serious illness. The trial will enro…

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 early study tests a custom-made digital dental device called the Digital Bonded Reverse Twin Block in 21 children aged 8-11 with a mild underbite. The device is designed to gently shift the jaw and teeth into better alignment. Researchers will measure changes in jaw position…

This phase 2 study tests the drug olaparib in 114 people with metastatic breast cancer whose tumors have mutations in certain DNA repair genes (like BRCA1, BRCA2, ATM, PALB2, and others). Olaparib is a PARP inhibitor that may kill cancer cells by blocking their ability to fix dam…

This phase 2 trial tests a gene therapy called RP-L102 for children with Fanconi anemia subtype A, a rare genetic disorder that leads to bone marrow failure. Doctors take the child's own blood stem cells, fix the faulty gene in a lab, and infuse the corrected cells back. The goal…

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 phase 2 trial tests whether adding a new antibody called HLX22 to standard treatment (trastuzumab plus chemotherapy) can shrink tumors and improve survival in people with HER2-positive pancreatic cancer that has spread. The study enrolls 45 adults who have not had prior trea…

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 tests a custom-made drug called an antisense oligonucleotide (ASO) designed specifically for one person with Bainbridge-Ropers syndrome, a rare genetic condition that causes developmental delays. The drug aims to correct the effects of a specific ASXL3 gene mutation. T…

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 study tests whether special lights and cameras can help find early signs of mouth cancer in people at high risk. About 338 participants with precancerous spots or conditions like Fanconi anemia will have their mouths examined with fluorescence imaging, which makes abnormal c…

This study tests whether special slip-resistant shoes can help dairy workers avoid slipping on wet, slippery floors. About 22 full-time employees at a Danish dairy will wear different shoes and rate how slippery they feel each day. The goal is to find footwear that reduces fall r…

This study tests a special tooth sealant that works even on wet teeth. Researchers will apply the sealant to 500 molars in 250 children aged 7-11, comparing how well it holds up when the tooth is dried for 3 seconds versus 15 seconds. The goal is to see if the sealant prevents ca…

This study looks at the long-term safety and effectiveness of odevixibat in 70 people with Alagille syndrome, a rare genetic condition that affects the liver and other organs. The drug aims to reduce severe itching and improve bile flow. Participants who completed a prior 24-week…

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 expanded access program gives seriously ill adults with advanced pancreatic cancer and cachexia (severe weight loss and muscle wasting) access to the experimental drug mifomelatide. Patients receive a daily injection for up to 13 weeks. The goal is to provide a potential tre…

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 tests whether offering online educational videos and mailed saliva genetic testing kits helps more first-degree relatives of people with BRCA mutations get tested, compared to standard care with a family letter. About 820 participants will be enrolled across several me…

This study examines how often healthcare workers in a hospital's intensive care unit (ICU) experience physical, verbal, or sexual assaults from patients or their relatives. Researchers will review medical records of 865 adults who were in the ICU and had a reported incident of vi…

This study followed children and young adults with genetic liver diseases that cause bile buildup. The goal was to track how these diseases progress over time, including the need for liver transplants or other complications. No treatments were tested; the aim was simply to learn …

This study follows nearly 600 people with Smith-Magenis syndrome (SMS), a rare genetic condition, to track how their health, behavior, and development change over time. Researchers will perform detailed medical exams, genetic tests, and surveys to better understand the syndrome's…

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 follows 450 infants and their families from birth to age 12 to learn how a child's biology and home environment work together to shape eating habits and growth. Researchers collect samples, measurements, and surveys at regular visits. The goal is to understand what inf…

This study looks back at the medical records of about 4 million people who had physical or occupational therapy for muscle and joint problems. Researchers want to see if different ways of giving therapy lead to different results. No new treatments are tested—the goal is to learn …

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 was designed to observe how patients with hereditary tyrosinemia type 1 (HT-1) in China respond to nitisinone treatment in everyday medical practice. It planned to track serious health events like liver problems or death. However, the study was withdrawn before enrolli…

This study looks at 200 people with a narrow upper jaw who are getting a palate expander. Researchers want to see if the angle of the premolars on X-rays can predict how much the jaw will widen. The goal is to better understand the treatment process, not to test a new therapy.

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…

This study was designed to see if a new monitoring algorithm could detect early signs of ovarian damage in women and girls who had cancer treatment. Researchers planned to compare a group using the new algorithm with a group that received standard care. However, the study was wit…

This study aimed to see if a rapid whole genome sequencing test on amniotic fluid could give faster genetic diagnoses for fetuses with suspected genetic diseases. Researchers planned to compare results from amniotic fluid and blood samples from up to 90 families. However, the stu…