Marfan and Marfan-related disorder

This study observes 80 children with Marfan syndrome to understand how the condition impacts their quality of life, self-image, and ability to manage their health. Participants fill out questionnaires about their well-being and medication habits. The goal is to identify who might…

This study looks for biological markers in the blood and tissue of adults with Marfan syndrome that could signal when an aortic aneurysm is dangerous enough to require surgery. Researchers will compare three groups of Marfan patients: those without aortic aneurysms, those with st…

This study looks at skin cells (fibroblasts) from people with Marfan syndrome and other genetic conditions that cause thoracic aortic aneurysms (a bulging of the main artery in the chest). Researchers want to find out how these cells behave differently and what genes or proteins …

This study aims to uncover the genetic roots of aortic aneurysms and valve disease by analyzing tissue and blood samples from 3,000 participants. Researchers will look for new disease-causing genes and factors that affect disease severity. The goal is to build a biorepository to …

This observational study looks at muscle strength, structure, and nerve function in people with Marfan syndrome or Ehlers-Danlos syndrome. Participants undergo a non-invasive muscle ultrasound and perform voluntary contractions while their muscle activity is recorded. The goal is…