NCT02148900

Development of a Blood Test for Marfan Syndrome

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 336 (estimated)
• Sponsor: Shriners Hospitals for Children · Academic / Other
• Sex: All
• Age: 4 Years – 26 Years
• Healthy volunteers: Accepted

Summary

The objective of this study is to determine whether a simple blood test can be a useful clinical tool for monitoring aortic disease in Marfan syndrome and Marfan-related disorders.

Detailed description

The primary objective of this study is to determine whether increased quantitites of circulating microfibril fragments, measured with a simple blood test, are associated with aortic root size and increased growth of the aortic root in Marfan syndrome and related disorders. The secondary objectives of this study are to: (1) Determine a Marfan "signature" profile of circulating microfibril fragments. (2) Determine if high concentrations of fibrillin-1 fragments are associated with large aortic root diameters. (3) Determine which fibrillin-1 fragments are good biomarkers for aortic root growth and size in Marfan syndrome. (4) Determine the relation between fibrillin-1, aortic root diameter, and medical and lifestyle factors reported on questionnaires.

Conditions

• Marfan Syndrome
• Marfan Related Disorders
• Control Subjects

Timeline

• Start date: 2013-05-01
• Primary completion: 2017-12-01
• Completion: 2017-12-01
• First posted: 2014-05-28
• Last updated: 2017-01-05

Locations

5 sites across 1 country: United States