Clinical Trials Spotlight - Hemophilia A

BioMarin Clinical Trials Offer Promising Gene Therapy Treatment for Hemophilia A

This summer and recently highlighted in The New York Times, three new clinical trials for Hemophilia A opened to enrollment, led by Dr. Steven Pipe and coordinated by the Children's CTSU. Sponsored by BioMarin, the trials offer patients a single infusion of a gene therapy product that has the potential to lessen or eliminate the symptoms of their Hemophilia A for years to come. 

In July, Pipe and the Children's CTSU team brought in three study patients to receive this investigational gene therapy treatment. 

"It's very exciting to be on the forefront of a paradigm shift in health care as pivotal as this trial," said Jonathon Wilbur, a CTSU lead study coordinator for the BioMarin trials. 

Hemophilia A is a hereditary bleeding disorder caused by a single gene mutation. Without this gene, patients cannot produce a necessary protein for blood to clot. This leads to recurrent internal bleeding, particularly into joints, which causes progressive pain and disability. This disorder affects an estimated 400,000 people worldwide. 

In these gene therapy trials, a viral vector is used to deliver working copies of the defective gene. These gene copies enter the cells of the liver, and use the cells' own machinery to produce the missing protein. 

For more information about the BioMarin clinical trials, click here.