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Gene Transfer to Treat von Willebrand Disease

A group of scientists representing the departments of genetic medicine and pediatrics of
the Weill Medical College of Cornell University in New York City have developed a
gene transfer technique that reportedly corrected the symptoms of severe von Willebrand
disease (VWD).* VWD is the most commonly occurring bleeding disorder in the United
States.  The cure for a disease of this magnitude has particular significance because
millions of people are affected by it.

Gene transfer is a technique that delivers genetic material into cells that lack genetic
information, or in this case von Willebrand Factor (VWF) in VWD.  Individuals living
with VWD either lack or have a defect in the genes needed to express VWF.  VWF is
important in forming blood clots because it shields factor VIII (FVIII), another important
protein in blood coagulation, from becoming deactivated in the bloodstream if left
exposed.  Without either VWF or FVIII, a clot cannot properly develop, resulting in a
bleeding disorder. 

The gene transfer technique developed by Dr. Robert G. Pergolizzi and colleagues 
successfully restored mice with severe VWD with the genetic material required to make
VWF.  Gene transfer was accomplished by injecting a solution of mouse VWF- DNA
into mice affected by severe VWD.

To track the success of the gene transfer, the researchers collected data on the
concentration of VWF in the bloodstream of mice after the transfer.  They reported that
the concentration of VWF never rose to the same level as that of mice with normal VWF. 
Likewise, the levels of VWF in mice receiving gene transfer were inconsistent over time. 
Nevertheless, the rates at which blood clots were formed in mice receiving gene transfer
were comparable to those in mice without VWD.  In other words, the gene transfer
approach restored the ability to form blood clots in mice with severe VWD, which was
comparable to the process in healthy mice without VWD. 

Liver analysis of the mice receiving gene transfer revealed that the genes for VWF were
expressed differently than in healthy mice. They manufactured, processed and packaged
VWF differently than mice without VWD. 

Nevertheless, this study reveals the strong clinical applications that gene transfer has in
treating VWD.  The research team anticipates discovering different methods of gene
transfer that prolong the expression of VWF in subjects receiving it. It recommends
further research into different viral vectors for use in gene transfer. 

*Pergolizzi, Robert G., et al.  “Correction of a Murine Model of von Willebrand Disease
by Gene Transfer.”  Blood.  2006: 108(3): 862-9.


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