Multiple congenital anomalies/dysmorphic syndrome without intellectual disability

This study will follow 30 people with Alagille syndrome who are taking odevixibat in their daily lives. The goal is to see how safe the drug is over the long term by tracking any side effects. It is not testing if the drug works, but rather monitoring its real-world safety.

This early-phase trial tests whether giving healthy stem cells from the mother to a fetus diagnosed with Fanconi anemia can safely improve the baby's blood cell production. The treatment is a one-time injection into the fetus during pregnancy. The study will enroll 12 pregnant wo…

This phase 2 trial tests a combination of two drugs (Benmelstobart and Anlotinib) plus targeted radiation (SBRT) in 29 adults with liver cancer that has spread to a few other spots and no longer responds to first-line treatment. The goal is to see if this triple therapy can slow …

This study compares the Invisalign Palatal Expander (IPE) with the Rapid Palatal Expander (RPE) in children aged 8–12 who have a narrow upper jaw and an underbite (skeletal Class III). Participants will wear a facemask after expansion. Researchers use 3D X-rays to measure changes…

This study compares two ways to correct an underbite (Class III malocclusion) in children whose jaws are still growing. One method uses a facemask attached to a tooth-borne expander, while the other uses a chin-plate anchored to the bone with small screws. Researchers will measur…

This study tests whether a lower dose of the chemotherapy drug treosulfan, given before a stem cell transplant, can help people with Nijmegen breakage syndrome. The condition causes immune problems and a high risk of cancer. The trial will enroll 24 patients, giving a lower dose …

People with Fanconi anaemia have a high risk of developing oral cancer, but standard biopsies are painful and risky due to their genetic sensitivity. This study tests a non-invasive oral brushing technique to detect early cancer cells in 115 patients aged 15 and older. If accurat…

This study compares two ways to break up kidney stones using a laser and a suction device. One method turns stones into dust, the other into small fragments. The goal is to see which leaves fewer stone pieces behind after one month. About 86 adults with small kidney stones will t…

This study screens up to 1,000 people with personal or family histories of certain cancers to see if they qualify for ongoing genetics research at the National Cancer Institute. Participants fill out a 15-20 minute online survey about their health and family history. No treatment…

This study looks at babies with a common type of birthmark (infantile hemangioma) on the lower back, bottom, or genital area. The goal is to find the best size cutoff for the birthmark to decide which babies should be screened for LUMBAR syndrome, a condition that can involve hid…

This study aims to find out how often exocrine pancreatic insufficiency (EPI) occurs in people with Alagille syndrome who have had a liver transplant. About 30 participants aged 7 to 50 will eat a high-fat diet and collect stool samples for lab testing. The results will help doct…

This study will compare custom 3D printed splints made at the hospital with those made by outside companies for jaw surgery. The splints help surgeons align the teeth and jaws correctly during the operation. Researchers want to see if the in-house splints are faster to get, cheap…