RARE DISEASES

This study looks at skin cells (fibroblasts) from 15 people with Marfan syndrome or other genetic conditions that cause thoracic aortic aneurysms. Researchers want to understand how these cells behave and what genes are turned on or off, which could help identify markers of aneur…

This study is testing a new way to care for people with rare diseases. It brings together specialists, advanced lab tests, and better data sharing to help diagnose patients faster and improve their overall care. The study involves 136 participants with conditions like mitochondri…

This study collects DNA, blood, urine, and tissue samples from 5,000 people with rare or undiagnosed diseases, plus their family members. Researchers at Mayo Clinic will analyze these samples to find genetic markers and causes of these conditions. The goal is to create a biobank …

This study looks at large DNA changes in 10,000 people with rare genetic disorders or brain conditions. Researchers will map the exact location of these changes and study how they affect gene activity. The goal is to improve genetic testing and find new targets for treatments.

This study looks at how muscles and tendons work in people with Marfan syndrome or Ehlers-Danlos syndrome. Researchers will compare these patients to healthy volunteers using ultrasound and gentle electrical stimulation. The goal is to learn more about muscle strength and structu…

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 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…