Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Marfan Syndrome

Study Overview
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Brief Summary
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Transforming Growth Factor Beta (TGF-β) is a protein that controls proliferation, cellular differentiation, and other functions in most cells. TGF-β levels play a major role in the pathogenesis of Marfan syndrome, a disease characterized by disproportionate height, long extremities, lens dislocation in the eyes and heart complications such as mitral valve prolapse and aortic enlargement increasing the likelihood of aortic dissection. While the underlying defect in Marfan syndrome is faulty synthesis of the glycoprotein fibrillin I, normally an important component of elastic fibers it has been shown that the Marfan syndrome phenotype can be relieved by addition of a TGF-β antagonist in affected mice.

Detailed Description
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Transforming Growth Factor Beta (TGF-β) is a protein that controls proliferation, cellular differentiation, and other functions in most cells. TGF-β levels play a major role in the pathogenesis of Marfan syndrome, a disease characterized by disproportionate height, long extremities, lens dislocation in the eyes and heart complications such as mitral valve prolapse and aortic enlargement increasing the likelihood of aortic dissection. While the underlying defect in Marfan syndrome is faulty synthesis of the glycoprotein fibrillin I, normally an important component of elastic fibers it has been shown that the Marfan syndrome phenotype can be relieved by addition of a TGF-β antagonist in affected mice. This suggest that while the symptoms of Marfan syndrome may seem consistent with a connective tissue disorder, the mechanism is more likely related to reduced sequestration of TGF-β by fibrillin.

Official Title
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Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With

Conditions
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Marfan Syndrome

Intervention / Treatment
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* Other: Blood draw


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Individual with Marfan syndrome consented in to the Main Atenolol Vs. Losartan NIH study. Exclusion Criteria: Subjects in the main PHN Marfan trial who have not achieved the maintenance drug dosing or who have stopped taking study drug.

Ages Eligible for Study
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Minimum Age: 6 Months
Maximum Age: 24 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Diagnostic
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Intervention/Treatment |
| --- |
|Other: Blood draw|This study includes one blood draw to measure circulating blood levels of TGF-B.|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| To determine if circulating levels of TGF-β correlate with treatment arms: Atenolol vs. Losartan. |  | 1 year | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| To determine if circulating levels of TGF-β correlate with clinical outcomes within a treatment group or independent treatment groups. | These clinical outcomes may be a change in aortic root Z-score, final aortic root dimension, final aortic root Z-score and other clinical outcomes in the main Marfan trial. | 1 year | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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TGF-B blood levels Atenolol vs, Losartan Study, NIH, NIHLB and NMF