Gene Therapy for Hemophilia A

Hemophilia A is a genetic bleeding disorder caused by a mutation in the F8 gene that leads to  low levels of a protein called factor VIII. Factor VIII is necessary for blood clotting. Severe hemophilia A can cause prolonged or spontaneous bleeding, particularly in the muscles and joints, or internal organs. The current standard of care for hemophilia A is to control or prevent bleeding episodes through factor replacement therapy, given by regular intravenous (IV) infusions.

How gene therapy for hemophilia A works

Gene therapy is designed to provide long-term expression of the missing or abnormal clotting factor to reduce — or even eliminate — the need for factor replacement therapy. In the laboratory, a normal F8 gene is packaged into a modified adeno-associated virus (AAV) that targets liver cells. This virus, which acts as a delivery vehicle, or vector, is introduced into a patient's body with a single intravenous infusion. The vector with the functional copy of the F8 gene then travels to the liver and enters the liver cells, enabling the body to make factor VIII.

Illustration hemophilia A gene therapy


Hemophilia A gene therapy clinical trial

Gene Transfer, Dose-Finding Safety, Tolerability, and Efficacy Study of SPK-8011 [a Recombinant Adeno-Associated Viral Vector With Human Factor VIII Gene] in Individuals With Hemophilia A
Recruiting males 18 Years and older (full eligibility criteria)
Boston Children’s Hospital

Started: Dec. 2016

Stacy Croteau, MD, principal investigator
Colleen Dansereau, MSN, RN, CPN617-919-7008 or colleen.dansereau@childrens.harvard.edu

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