The IAA One Minute Blog

New trials on the blood clotting disorder hemophilia show a brighter future.

Trials Across Continents

Two trials took place in England and the United States. England’s trial focused on hemophilia A, while the American trial focused on hemophilia B.

In the British trial, all 13 patients with hemophilia A were able to go without preventative injections of a blood clotting factor that they needed almost weekly, researchers report. Ten of the 13 patients experienced no bleeding incidents requiring transfusion. The improvement began a month after the one-time gene therapy and continued over 18 months of follow up. 

Patients received either a high or low dose of gene therapy. Five months after receiving the treatment, people who received the higher dose achieved factor VIII levels that settled out at the normal range; while three of the patients who got the lower dose achieved that level by eight months after treatment, findings showed.

The study was led by Dr. K. John Pasi, hemophilia clinical director at Barts Health NHS Trust in London. It was funded by the drug company Biomarin Pharmaceuticals.

Those findings followed news of another study, published on Wednesday, December 6^th, that found a similar approach helped 10 men with hemophilia B go without standard treatments.

For the study, patients were given one dose of the gene therapy into their livers. That is where the body normally produces the factor IX protein that allows blood to clot properly. The dose contained a payload of the gene that codes for a naturally occurring clotting factor that’s eight to 10 times stronger than the normal factor and known as factor IX-Padua. All of the patients benefited from the gene therapy, researchers said. It moved them out of the severe disease category and almost eliminated bleeding in their joints.  

The study was led by Lindsey George of the Children’s Hospital of Philadelphia. The research was funded by pharmaceutical companies Spark Therapeutics and Pfizer.

Both studies were published in the “New England Journal of Medicine”.  Researchers stressed it is too soon to draw conclusions about the long-term safety of the treatment.

Signs and Symptoms

Hemophilia arises from an inherited gene mutation that impedes the ability to produce normal levels of a blood clotting factor. This leaves patients vulnerable to spontaneous bleeding or excessive bleeding from injuries. Signs and symptoms of the disorder are:

• Bleeding from a cut that resumes after stopping for a short time
• Bleeding in the joints: Bleeding in the knees, elbows or other joints. This bleeding can occur with or without obvious injury. At first, the bleeding causes tightness in the joint with no real pain or any visible signs of bleeding. The joint then becomes swollen, hot to touch, and painful to bend.
• Bleeding in the mouth from a cut or bite or from cutting or losing a tooth
• Heavy bleeding from a minor cut
• Large bruises: From bleeding into the large muscles of the body.

Emergency signs and symptoms include:

• Double vision
• Extreme fatigue
• Neck pain
• Painful, prolonged headache
• Repeated vomiting
• Sudden pain, swelling and warmth in large joints, such as the knees, elbows, hips, and shoulders, and in the arm and leg muscles

Hemophilia A affects 80 percent of all patients, while hemophilia B is less common and occurs in about 20 percent of people with hemophilia.

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