RARE DISEASES

This study aims to understand how Marfan syndrome and Ehlers-Danlos syndrome affect muscles. Researchers will examine 65 participants using muscle ultrasound and strength tests to compare their muscle structure and function with healthy individuals. The goal is to gather basic kn…

This study is collecting samples like blood, tissue, and DNA from 5,000 people with rare or undiagnosed diseases. Researchers will store these samples in a biobank to study them and look for genetic causes of these conditions. The goal is to help diagnose patients and find potent…

This study aims to understand how doctors in Russia currently diagnose and treat adults with a rare autoimmune disorder called Neuromyelitis Optica Spectrum Disorder (NMOSD). It will observe 100 patients over three years, collecting information from their regular medical records …

This study aims to understand how aortic aneurysms develop in people with Marfan syndrome and related genetic conditions. Researchers will collect small skin samples from 15 participants to study their cells in the lab. By comparing these cells to those from healthy people, they …

This study aims to understand how the body's automatic nervous system (which controls things like heart rate and blood pressure) functions in people with a rare condition called thoracic aortic aneurysm (TAA). Researchers want to see if measuring this system can help predict whic…

This study aims to understand how Marfan syndrome affects children's quality of life, self-image, and ability to manage their condition. Researchers will have 80 Italian children with Marfan syndrome complete questionnaires about their experiences. The goal is to identify which c…

This research project aims to understand how specific large-scale genetic changes cause rare congenital brain disorders. Researchers will study DNA from up to 10,000 people with suspected rare diseases to pinpoint these changes and then test their effects using patient cells and …