RARE DISEASES

This study looks at whether keeping the umbilical cord intact while helping a newborn breathe (instead of clamping it right away) improves heart and lung function in full-term babies born with a rare hole in the diaphragm called congenital diaphragmatic hernia (CDH). About 180 ba…

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

This study reviews medical records from over 1,200 people who survived immune thrombotic thrombocytopenic purpura (iTTP), a rare and life-threatening blood disorder. Researchers aim to understand long-term risks like heart disease and stroke, and how newer treatments affect survi…

This study is testing a tool called B-COMPASS that uses a 22-question survey to predict whether people will follow their treatment plans. Researchers will enroll 3,100 adults with cardiovascular, endocrine, immune, neurological, cancer, or rare diseases across Europe. The goal is…

This study is for 400 people with advanced or rare cancers who have not responded to standard treatments. Doctors use each person's tumor gene profile to pick a personalized therapy. The goal is to see if this approach improves tumor shrinkage and helps more patients get targeted…

This study will look back at genetic test results from about 12,000 people with rare diseases or a family history of them. Researchers want to see how often newer DNA sequencing methods find the cause compared to older tests. No new treatments or tests are given—it's all about le…

This study aims to find the genetic causes of rare or unusual 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 is building a national registry for people of any age living in Switzerland who have a rare disease or are strongly suspected of having one. The goal is to collect information like diagnosis, genetic details, and disease history to help researchers and doctors better u…

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

This study offers advanced genetic testing and virtual doctor consultations for seriously ill newborns in Texas hospitals with limited resources, especially near the Texas-Mexico border. Researchers will test a tool called Consultagene to see if it helps doctors diagnose rare gen…

This study follows people of any age who have or may have a RUNX1 gene variant, which can cause bleeding problems and increase the risk of blood cancers. Researchers aim to learn more about these conditions to improve diagnosis, monitoring, and future treatments. Participants pro…

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 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 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…