Control Subjects, Marfan Related Disorders, Marfan Syndrome
Conditions
Keywords
Marfan syndrome, blood test, aortic root size, Marfan related disorders
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.
Interventions
None listed
Sponsors
Oregon Health and Science University
University of Utah
The University of Texas Health Science Center, Houston
Shriners Hospitals for Children
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
4 Years to 26 Years
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| Aortic root growth | yearly for five years | Aortic root growth will be correlated with concentrations of circulating microfibril fragments. |
Other
| Measure | Time frame | Description |
|---|---|---|
| medical and lifestyle issues | yearly for five years | Information from questionnaires will be associated with aortic root growth and concentrations of circulating microfibril fragments. |
Countries
United States
Contacts
Primary ContactLynn Y. Sakai, Ph.D.
Backup ContactSusan Sienko, Ph.D.
Outcome results
None listed