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

Ann & Robert H Lurie Children's Hospital of Chicago

Status and phase: Withdrawn; Phase 3

Conditions: Marfan Syndrome

Treatments: Other: Blood draw

Study type: Interventional

Funder types: Other

Identifiers

NCT01361087

IRB # 2011-14507

Details and patient eligibility

About

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.

Full 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.

Sex: All

Ages: 6 months to 24 years old

Volunteers: No Healthy Volunteers

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.

Trial design

Primary purpose: Diagnostic

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)