CHOP CoPS Ullrich and Bethlem Study

December 22 2008

The CHOP CoPS is a comprehensive study of the clinical manifestations of collagen VI deficiency (Ullrich and Bethlem).  The purpose of this study is to: characterize collagen VI deficiency disease, follow the natural history in both subtypes and understand the impact of collagen VI on the affected person and family.  Participating in this study directly impacts the ability to design meaningful future clinical trials for the Collagen VI disorders.

Principal Investigator: Dr. Carsten Bonnemann
Please contact: Alex Columbus
Email: columbusa@email.chop.edu
phone number: 267-426-5164
12/08/08: Total completed surveys: 28


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    A group of diseases causing muscle weakness at birth. Several defined genetic mutations cause muscles to break down faster than they can repair or grow. A child with CMD may have various neurological or physical impairments. Some children never gain the ability to walk, while others lose the ability as they grow older. Learn more...
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