RARE DISEASES

This study is testing whether a blood-filtering procedure called rheopheresis can help heal painful skin ulcers caused by calciphylaxis in people on dialysis. About 138 participants will be randomly assigned to receive either the real treatment or a sham procedure, in addition to…

This study is testing a new computer tool called B-COMPASS, which aims to predict which patients might struggle to follow their treatment plans. It will involve 3,100 patients across Europe with conditions like heart disease, cancer, and rare diseases. The goal is to see if the t…

This study provides advanced genetic testing and virtual doctor visits for seriously ill newborns in Texas hospitals, especially those with fewer resources. Researchers will test 200 infants over five years to try to find a genetic cause for their illness. They also want to learn…

This study aims to learn more about a rare, inherited blood disorder called FPDMM, which is caused by a change in the RUNX1 gene. Researchers will follow people with this gene change and their family members over many years to understand how the disease develops, why some people …

This study aims to collect information on how well personalized cancer treatments work for patients who have no standard treatment options left. It will enroll 400 people with advanced or rare cancers. Doctors will use each patient's unique genetic tumor information to recommend …

This project is creating a national registry to collect information about people in Switzerland who have a rare disease. The goal is to gather data to better understand these conditions, improve healthcare, and connect patients to research opportunities. It aims to enroll up to 5…

This study aims to better understand aortic stiffness in people with genetic conditions that affect the aorta, the body's main artery. Researchers will measure stiffness using a simple, non-invasive test called Pulse Wave Velocity in 250 participants who have thoracic aortic aneu…

This study aims to understand the long-term health of people who have survived a rare and life-threatening blood clotting disorder called immune thrombotic thrombocytopenic purpura (iTTP). Researchers will look back at the medical records of over 1,200 patients in France to learn…

This study aims to find genetic causes for rare and undiagnosed diseases in children, focusing on families living outside the United States where access to genetic testing has been limited. Researchers will use advanced genetic sequencing techniques on samples from children and t…

This study aims to understand how doctors in Russia currently treat adults with a specific form of myasthenia gravis (gMG) in everyday practice. It will observe 450 patients over three years, collecting information from their medical records about the treatments they receive and …

This study aims to create a single, large registry to collect information on many different rare diseases. It will enroll about 380 patients already being treated at the Hospital Italiano de Buenos Aires who have one of the listed rare conditions. The goal is to gather data to be…