Gene Therapy is Shown to be Successful Treatment for Hemophilia A


Hemophilia A is the most common type of hemophilia, accounting for 8 of every 10 cases. Treatment in the past consisted of the administration of concentrated factor VIII through an IV, and depending on the severity of the case, people may have to receive routine doses. Another option in treatment may soon be widely available, as a gene therapy has shown to be very effective in the treatment of hemophilia A. BioMarin Pharmaceutical is currently conducting Phase 3 of their study, and they have also begun the application process with the FDA.

About Hemophilia A

Hemophilia A is a genetic bleeding disorder that is caused by a lack of clotting protein called factor VIII (FVIII). This lack of clotting leads to excessive, prolonged bleeding. It is a disorder that affects mainly males, at about 20,000 people in the United States total.

Hemophilia A is inherited in a recessive pattern and is carried on the X chromosome. Those affected by this disorder experience bruising, nose bleeds, bleeding in the digestive and urinary tracts, excessive bleeding after cuts, and bleeding in the joints when associated with pain and swelling. In affected females, excessive bleeding occurs during menstruation and child birth.

Treatment for this disorder consists of the administration of concentrated FVIII, and it is given through an IV form. Those with hemophilia A receive treatment routinely. When bleeding occurs it is treated with Desmopressin Acetate (DDAVP) in a nasal spray or through an IV.

About BioMarin’s Gene Therapy

The results of participants in a study of BioMarin’s new gene therapy have been published in the New England Journal of Medicine, and they show that this therapy may be a functional cure. This therapy, which effectively fixes a gene in the liver that plays a role in the lack of FVIII, uses a virus to bring the proper DNA sequence for the production of factor FVIII. It is administered through an IV, and people only have to receive it once.

The initial study included seven participants, who saw a 96% decrease in bleeding three years after receiving treatment. Six other participants, who joined at a later date, saw a 92% decrease in bleeding. The company is now conducting a Phase 3 trial at a much larger scale. 130 people are enrolled in this phase. Adults are currently the only people eligible for this therapy, and they must not have HIV or hepatitis due to the fact that the therapy includes a virus in the liver.

While researchers are very encouraged by the results, they know that they still have work to do. They strive to create a therapy that everyone can use and they also acknowledge that the price, $500,000, is something that may create a barrier between people and their treatment.

Find the source article here.

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