Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Marfan Syndrome
Study Details
Study Description
Brief Summary
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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
Phase 3 |
Detailed Description
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.
Study Design
Outcome Measures
Primary Outcome Measures
- To determine if circulating levels of TGF-β correlate with treatment arms: Atenolol vs. Losartan. [1 year]
Secondary Outcome Measures
- To determine if circulating levels of TGF-β correlate with clinical outcomes within a treatment group or independent treatment groups. [1 year]
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.
Eligibility Criteria
Criteria
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.
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Children's Memorial Hospital Chicago | Chicago | Illinois | United States | 60614 |
Sponsors and Collaborators
- Ann & Robert H Lurie Children's Hospital of Chicago
- Johns Hopkins University
Investigators
None specified.Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- IRB # 2011-14507