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

NCT ID: NCT01361087

Last Updated: 2016-02-05

Basic Information

• Recruitment Status: WITHDRAWN
• Clinical Phase: PHASE3
• Study Classification: INTERVENTIONAL
• Study Start Date: 2011-04-30

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.

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.

Conditions

Marfan Syndrome

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: DIAGNOSTIC
• Blinding Strategy: NONE

Interventions

Blood draw

This study includes one blood draw to measure circulating blood levels of TGF-B.

Intervention Type: OTHER

Eligibility 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.

• Minimum Eligible Age: 6 Months
• Maximum Eligible Age: 24 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Johns Hopkins University

OTHER

Sponsor Role: collaborator

Ann & Robert H Lurie Children's Hospital of Chicago

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Children's Memorial Hospital Chicago

Chicago, Illinois, United States

Countries

United States

Other Identifiers

IRB # 2011-14507

Identifier Type: -

Identifier Source: org_study_id