Multiple congenital anomalies/dysmorphic syndrome without intellectual disability

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 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 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 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 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 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 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 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 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 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 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 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 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 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 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…