Development of a Blood Test for Marfan Syndrome

Study Overview
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Brief Summary
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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
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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.

Official Title
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Development of a Blood Test for Marfan Syndrome

Conditions
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Marfan Syndrome, Marfan Related Disorders, Control Subjects

Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 4 Years
Maximum Age: 26 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Marfan<br>Diagnosis of Marfan syndrome, according to Ghent criteria. | |
| Marfan Related Disorders<br>Diagnosis of Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, or Familial Thoracic Aortic Aneurysm and Dissection. | |
| Control Subjects<br>Unaffected by Marfan or Marfan related disorders. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| microfibril fragments | Plasma will be tested using sandwich ELISAs and standard curves to quantitate fragments of fibrillin-1, fibrillin-2, and fibulin-4. | measured yearly over 5 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Aortic root growth | Aortic root growth will be correlated with concentrations of circulating microfibril fragments. | yearly for five years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Marfan syndrome, blood test, aortic root size, Marfan related disorders