Clinical Trial: Development of a Blood Test for Marfan Syndrome

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational [Patient Registry]

Official Title: Development of a Blood Test for Marfan Syndrome

Brief 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 Summary: 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.
Sponsor: Shriners Hospitals for Children

Current Primary Outcome: microfibril fragments [ Time Frame: measured yearly over 5 years ]

Plasma will be tested using sandwich ELISAs and standard curves to quantitate fragments of fibrillin-1, fibrillin-2, and fibulin-4.


Original Primary Outcome: Same as current

Current Secondary Outcome: Aortic root growth [ Time Frame: yearly for five years ]

Aortic root growth will be correlated with concentrations of circulating microfibril fragments.


Original Secondary Outcome: Same as current

Information By: Shriners Hospitals for Children

Dates:
Date Received: May 23, 2014
Date Started: May 2013
Date Completion: December 2017
Last Updated: January 4, 2017
Last Verified: January 2017