Development of a Blood Test for Marfan Syndrome

Shriners Hospitals for Children

Status

Unknown

Conditions

Marfan Syndrome

Marfan Related Disorders

Control Subjects

Study type

Observational

Funder types

Other

Identifiers

NCT02148900

79135

Details and patient eligibility

About

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.

Full 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.

Enrollment

336 estimated patients

Sex

All

Ages

4 to 26 years old

Volunteers

Accepts Healthy Volunteers

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