RARE DISEASES

This study observes 100 adults in Russia who have a rare autoimmune disease called neuromyelitis optica spectrum disorder (NMOSD). Researchers will collect information from medical records and follow-ups to see what treatments doctors use and how patients fare over time. No exper…

This study looks at how Marfan syndrome affects the daily lives of 80 children. Researchers want to understand how the condition impacts quality of life, self-image, and the ability to manage their own health. Participants fill out four questionnaires to help doctors identify who…

This study is testing a new way to care for people with rare diseases. It brings together specialists, new technologies like genetic testing, and better coordination between hospitals and local services. The goal is to help 136 patients get a faster diagnosis and reduce unnecessa…

This study looks at skin cells (fibroblasts) from 15 people with Marfan syndrome or other genetic aortic diseases to understand how aortic aneurysms develop. Researchers will examine how these cells move and behave, and which genes are turned on or off. The goal is to find marker…

This study looks at how muscles and tendons work in people with Marfan syndrome or Ehlers-Danlos syndrome. Researchers will measure muscle strength, use ultrasound to see muscle shape, and test nerve signals with gentle electrical pulses. The goal is to learn more about these rar…

This study looks at 10,000 people with rare diseases or chromosome changes to understand how DNA rearrangements cause brain disorders. Researchers will map these genetic changes in detail and test their effects in fish and lab-grown cells. The goal is to improve genetic testing a…

This study aims to collect DNA, RNA, and other samples from 5,000 people with rare or undiagnosed diseases, plus their family members. Researchers will store these samples in a biobank to study what causes these conditions and how to treat them better. Participants must have a su…

This study looks at how the nervous system works in adults with a rare condition called thoracic aortic aneurysm (a bulge in the chest's main artery). Researchers want to see if certain nerve patterns can help identify who is at higher risk for complications. About 139 participan…