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December 11, 2000

Emory fights hemophilia on many fronts,
improving patient lives

By Holly Korschun

The comprehensive hemophilia program at Emory has become a national leader in research and treatment programs that are helping improve the lives of the 15,000 hemophiliacs living in the U.S.

Although these patients can now enjoy a normal lifespan, they must rely on infusions to treat frequent bleeding episodes, then cope with resulting complications, including inhibitors that can render the infusions ineffective as well as the threat of infections and joint diseases caused by internal bleeding.

In the past, the cure for hemophilia has sometimes been worse than the disease.
Individuals with hemophilia are missing the gene that makes Factor VIII a critical cog of the blood clotting machinery. Factor VIII is a component of fibrin, which is the cement the body uses to seal a wound after platelets first plug it up.

In the past, Factor VIII products to treat hemophilia patients were made by concentrating clotting factor gathered from the plasma of a large group of donors. In the mid-1980s, when scientists discovered that these blood products could transmit diseases like HIV and hepatitis C, they began heating Factor VIII products to kill these viruses.

In the early 1990s, scientists carried safety one step further with genetically engineered recombinant Factor VIII products, made by inserting the Factor VIII gene into a cell line and producing mass quantities of concentrated human Factor VIII.

Although these products contained no human or animal products, they were stabilized with a small amount of albumin, a human blood component. Kogenate FS––the newest FDA-approved product––uses small amounts of albumin in the initial “fermenting” solution, but in the final stage, albumin is removed, leaving the product almost completely free of any human or animal components.

“Our research found that the new product works just as well as the current products and appears to offer a greater safety margin against infectious agents,” said Thomas Abshire, medical director of Emory’s hemophilia program and one of the principal investigators for the study.

Emory has just completed another randomized study, in collaboration with the American Red Cross, in which hemophilia patients with hepatitis C were treated either with a combination of interferon (the known treatment) and Ribavirin, or with interferon alone. Preliminary results determined that the combination therapy is better.

Emory also is a world leader in treating joint disease in hemophiliacs––a common problem caused by bleeding into joints, which causes irritation in the lining of the joint cavity and creates a cycle of bleeding and inflammation. Surgeons and hematologists have collaborated on a study of arthroscopic synovectomy, in which a small endoscope is inserted into the ankle, elbow or knee to clean out the thickened lining.

When surgery is not an option, physicians use an alternative technique to inject a radioisotope into the joint that eliminates the abnormal lining. Michael Busch and Amy Dunn coordinate this program.

Emory’s comprehensive adult and pediatric hemophilia program includes hematologists, infectious disease specialists, hepatologists, orthopaedic surgeons, physical therapists and specialty nurses. The program receives some federal funding through the Maternal and Child Health Bureau (MCHB) and the Centers for Disease Control and Prevention (CDC). Two adult and two pediatric hematologists treat 350 patients, including 140 children, and the staff also works closely with a program at

Children’s Healthcare of Atlanta at Scottish Rite that treats 150 additional children. Abshire also is medical director for MCHB Region IV South hemophilia programs that include Alabama, Mississippi, Georgia and Florida.

Although the number of hemophilia patients is small relative to many other diseases, it commands a great deal of attention because it is so expensive to treat. For example, clotting factor for a mild joint bleed in a typical 7-year-old child, even at reduced rates, averages $600 per infusion, with some patients needing several infusions per week.

“There is a motivation to produce a better product and one you can use less of, which may come with the eventual development of gene therapy for Factor VIII,” Abshire said.

Other current clinical trials at Emory aimed at treating bleeding disorders and their complications include: (1) a study of children who experience clotting problems from permanent IVs; (2) a CDC-sponsored study designed to identify and treat women with undiagnosed bleeding disorders who are experiencing abnormal bleeding with menstrual periods (hematologist Sidney Stein leads the Emory component of this multisite study); (3) multiple clinical trials designed to evaluate the safety and efficacy of new products used to treat bleeding episodes; (4) multiple AIDS Clinical Trials Group (ACTG) studies for patients who contracted HIV infection from blood products prior to the development of safer products.

The Emory hemophilia treatment center also participates in studies designed to identify the safest and most cost-effective methods for preventing the complications of congenital bleeding disorders, including the CDC-sponsored Universal Data Collection System and the National Hemophilia Foundation’s National Prevention and Awareness Campaign.

Exciting research advances are on the horizon to deal with the problems faced by the 20 percent of hemophilia patients who have antibodies that inhibit the effectiveness of substitute Factor VIII products. For instance, Emory hematologist Pete Lollar is conducting research that includes gene therapy and an improved Factor VIII molecule constructed from a combination of human and pig Factor VIII genes.


Back to Emory Report Dec. 11, 2000