RARE DISEASES

This study tests a simple change at birth: instead of clamping the umbilical cord right away, doctors will keep it intact while helping the baby breathe. The goal is to see if this improves heart and lung function in full-term infants with congenital diaphragmatic hernia (CDH), a…

This study tests a blood filtering procedure called rheopheresis to treat calciphylaxis, a rare condition causing painful skin wounds in people on dialysis. About 138 participants will receive either rheopheresis or a sham procedure to see if it helps wounds heal completely withi…

This study offers people with advanced or rare cancers a personalized treatment plan based on their tumor's genetic profile. Each participant receives a unique therapy chosen by a team of experts. The goal is to see if these tailored treatments can shrink tumors and help more pat…

This study offers rapid whole genome sequencing and virtual genetic consultations to 200 seriously ill newborns in Texas hospitals with limited resources, especially along the Texas-Mexico border. Researchers want to see if the virtual tool, Consultagene, helps doctors diagnose r…

This study aims to find genetic causes of rare diseases in children aged 2 to 18 who live outside the United States and have limited access to genetic testing. Researchers will collect blood, saliva, or cheek swab samples from affected children and their family members. The goal …

This study collects blood, urine, and skin samples from people with rare genetic diseases whose genetic cause is not yet known. The goal is to build a biobank that researchers can use to confirm whether certain gene variants are responsible for these diseases. By identifying new …

This study follows people of all ages who have or may have a RUNX1 gene variant, which can cause bleeding problems and increase the risk of blood cancers. Researchers will collect medical history, blood samples, and bone marrow over many years to understand how the condition deve…

This study watches how doctors in Russia treat adults with a rare muscle-weakening disease called generalized myasthenia gravis (gMG). It does not test any new drug. Instead, it collects information from medical records and routine check-ups for about 450 people over time. The go…

This study follows 50 children and adults with Baker Gordon Syndrome, a rare genetic disorder, to track how the condition changes over time. Participants will undergo brain scans, EEGs, and genetic testing, and complete developmental assessments. The goal is to create better tool…

This study is for people with rare, undiagnosed genetic conditions that standard tests couldn't identify. Researchers will use whole genome sequencing of the patient and their parents, plus advanced lab work, to find new disease genes and provide a diagnosis. The goal is to give …

This study looks back at genetic test results from about 12,000 people with rare diseases or family cancer syndromes. Researchers want to see how often exome or genome sequencing finds a diagnosis compared to older methods. The goal is to improve future testing and close diagnost…

This study surveys 300 young adults aged 15-25 with rare genetic diseases to understand the difficulties they face in getting education, internships, and stable jobs. Participants fill out a short form about their experiences. The goal is to find what helps or hinders their path …

This study is testing a tool called B-COMPASS that uses a 22-question survey to predict whether people will follow their prescribed treatments. Researchers will enroll 3100 adults with cardiovascular, endocrine, immune, nerve, cancer, or rare diseases across Europe. The goal is t…

This study is creating a large database to collect information on people with rare diseases like amyloidosis, sarcoidosis, and Gaucher disease. Researchers will track patients' health over time, including their symptoms, treatments, and outcomes. The goal is to improve diagnosis …

This study is building a national registry in Switzerland for people of any age with a rare disease or strong suspicion of one. Researchers will collect data on diagnoses, genetics, and disease history to better understand these conditions. The registry aims to support research, …

This study reviews medical records from over 1,200 people with immune thrombotic thrombocytopenic purpura (iTTP), a rare and life-threatening blood disorder. The goal is to understand long-term health problems, such as heart disease and thinking issues, that survivors face. By an…

This observational study is measuring arterial stiffness in 250 people with genetic conditions that cause aortic aneurysms. Researchers want to see if stiffness can help predict who is at higher risk. Participants undergo a simple, non-invasive test of blood pressure and artery s…