RARE DISEASES

This study tests whether a blood-filtering procedure called rheopheresis can help heal severe skin wounds caused by calciphylaxis, a rare complication in people on dialysis. About 138 adults with end-stage kidney disease and at least one open wound will receive either standard ca…

This study looks at how stiff the arteries are in people who have a genetic condition that causes a bulge in the main artery (aortic aneurysm). Researchers want to see if measuring artery stiffness can help predict who is at higher risk. About 250 participants will have non-invas…

This study tests a new model called B-COMPASS that uses a 22-question survey to predict how well patients will follow their treatment plans. About 3100 adults with heart disease, diabetes, immune disorders, nerve conditions, cancer, or rare diseases will take part across Europe. …

This study aims to find the genetic causes of unusual or 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 the children and their family members …

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 issues like heart disease and how new treatments affect survival. No new treatm…

This study looks at how doctors in Russia currently treat a rare muscle-weakening disease called generalized myasthenia gravis (gMG). Researchers will collect medical records and follow about 450 adults with the AChR-antibody form of the disease to see which treatments are used a…

This study enrolls 400 people with advanced or rare cancers to test personalized treatments based on their tumor's genetic profile. Doctors use each patient's unique genetic information to select a targeted therapy, then track how well the cancer responds. The goal is to improve …

This study provides advanced genetic testing and virtual doctor consultations for seriously ill newborns in Texas hospitals with fewer resources, especially near the Texas-Mexico border. Researchers will test a virtual consultation tool called Consultagene and gather feedback fro…

This study follows people of any age who have or may have a RUNX1 gene change, which can cause bleeding problems and increase the risk of blood cancers. Researchers will collect medical history, blood samples, and sometimes bone marrow over many years to learn how the condition d…

This study is creating a large database to collect information about people with rare diseases like amyloidosis, sarcoidosis, and many others. Researchers will track participants' health, treatments, and outcomes over time to better understand these conditions. The goal is to imp…

This study is building a national registry for people of any age in Switzerland who have a rare disease or are strongly suspected of having one. The goal is to collect information like diagnosis, symptoms, and genetic data to help researchers understand these diseases better and …

This study looks at the difficulties young people aged 15 to 25 with rare genetic diseases face when trying to get into training programs, college, or jobs. Researchers will follow 300 participants to see what helps or hinders their success. The goal is to find better ways to sup…