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

Last updated: February 4, 2016
Sponsor: Ann & Robert H Lurie Children's Hospital of Chicago
Overall Status: Trial Not Available

Phase

3

Condition

Connective Tissue Diseases

Severe Short Stature

Treatment

N/A

Clinical Study ID

NCT01361087
IRB # 2011-14507
  • Ages 6-24
  • All Genders

Study 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.

Eligibility Criteria

Inclusion

Inclusion Criteria:

  • Individual with Marfan syndrome consented in to the Main Atenolol Vs. Losartan NIHstudy.

Exclusion

Exclusion Criteria:

  • Subjects in the main PHN Marfan trial who have not achieved the maintenance drugdosing or who have stopped taking study drug.

Study Design

Study Start date:
April 01, 2011
Estimated Completion Date:

Study 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.

Connect with a study center

  • Children's Memorial Hospital Chicago

    Chicago, Illinois 60614
    United States

    Site Not Available

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