Development of a Blood Test for Marfan Syndrome

• Conditions: Marfan Related Disorders; Marfan Syndrome; Control Subjects

• Registration Number: NCT02148900
• Lead Sponsor: Shriners Hospitals for Children

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 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.

Study Timeline

• Study Start: 2013-05
• Study First Submitted: 2014-05-23
• Study First Submitted QC: 2014-05-27
• Study First Posted: 2014-05-28
• Status Verified: 2017-01
• Last Update Submitted: 2017-01-04
• Last Update Posted: 2017-01-05
• Primary Completion: 2017-12
• Study Completion: 2017-12

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 336

Inclusion Criteria

• Age 4-26 years of age for all participants
• Diagnosis of Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, or Familial Thoracic Aortic Aneurysm and Dissection for inclusion in Marfan and Marfan-related disorders groups
• Diagnosis of unaffected by Marfan syndrome and Marfan-related disorders for inclusion in control group
• Able and willing to sign informed consent/assent
• Signed HIPPA compliant research authorization

Exclusion Criteria

• Other known cardiovascular disorder for unaffected controls

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
microfibril fragments	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.

Secondary Outcome Measures

Name	Time	Method
Aortic root growth	yearly for five years	Aortic root growth will be correlated with concentrations of circulating microfibril fragments.

Trial Locations

Locations (5)

Oregon Health & Science University; 🇺🇸 Portland, Oregon, United States

Shriners Hospital for Children; 🇺🇸 Portland, Oregon, United States

Lurie Childrens Hospital; 🇺🇸 Chicago, Illinois, United States

University of Nebraska; 🇺🇸 Omaha, Nebraska, United States

University of Texas at Houston; 🇺🇸 Houston, Texas, United States