Multiple congenital anomalies/dysmorphic syndrome

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 study tests whether everolimus, a drug already approved for other conditions, can safely improve social abilities in people with PTEN Hamartoma Tumor Syndrome (PHTS). About 60 adults and children with PHTS and social difficulties will take either everolimus or a placebo for …

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 tests a custom-made drug called an antisense oligonucleotide (ASO) designed for one person with Schuurs-Hoeijmakers syndrome, a rare genetic condition. The drug aims to correct a specific genetic mutation to improve communication and motor skills. Only one participant …

This study tests whether one or two doses of ripertamab can help children aged 16 and older who have frequent relapses or steroid-dependent nephrotic syndrome. The goal is to see which dose works better at preventing relapses and reducing the need for steroids. The trial will enr…

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 …

This study tests a new CPR method called Bio-CPR, which synchronizes chest compressions with ventilation using a machine. Researchers will compare it to standard CPR in 408 adults who have a witnessed cardiac arrest. The goal is to see if this coordinated approach improves breath…

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 tests whether sending text messages or voice call reminders with helpful behavior change tips can improve how many babies get their full set of vaccines on time. About 7,800 caregivers of newborns in Bangladesh will be split into three groups: one gets no reminders, on…

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 tests whether electroacupuncture (mild electrical pulses through thin needles) can help patients whose stomachs stop working properly after surgery for digestive tract tumors. Seventy-six adults who had such surgery and developed gastroparesis (stomach paralysis) will …

This pilot study tests whether N-acetylcysteine (NAC), an antioxidant supplement, can reduce repetitive and self-injurious behaviors in people with Cornelia de Lange syndrome (CdLS). Ten participants aged 13–35 will receive both NAC and a placebo in random order over 18 weeks. Th…

This study tests an experimental drug called BMB-101 in 16 adults with Prader-Willi syndrome who struggle with severe, constant hunger. The trial is double-blind and placebo-controlled, meaning some participants get the drug and some get a dummy treatment, and neither they nor th…

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…

This study aims to better understand a condition called multilocus imprinting disorder (MLID), where multiple genes are affected by abnormal chemical marks. Researchers will test a new technique to detect these marks in 96 people, including those with known imprinting disorders a…

This study looks at the teeth, mouth, and face health of 25 people with Mowat-Wilson syndrome, a rare genetic condition. Researchers will check for cavities, gum disease, and facial features, and ask about quality of life. No treatment is given—the goal is to gather information t…

This study looks at why people with Noonan syndrome often bleed easily, especially from the skin, mouth, or nose. Researchers will compare a simple questionnaire about bleeding history with blood tests in 100 patients. The goal is to find better ways to predict serious bleeding, …