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Factoring in: Potential treatment for hemophilia

Of all genetic diseases, this family of bleeding disorders is among the lead contenders for successful gene replacement therapy. But the promise is accompanied by caution.

By Susan J. Landers, amednews staff. May 6, 2002.

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Mapping Disease
As the results of the Human Genome Project began to shake out into clinical applications, this 2001-02 series detailed progress in the prevention and treatment of a variety of diseases and conditions -- both on the near horizon and possibilities far into the future.

"About 70 or 80 years ago a woman by the name of Smith ... transmitted the following idiosyncrasy to her descendants," wrote John Conrad Otto, MD, in 1803. "If the least scratch is made on the skin of some of them, as mortal a hemorrhage will eventually ensue as if the largest wound is inflected."

Most would readily recognize this description of hemophilia.

Dr. Otto also had concluded that the disease was linked to the X chromosome. "It is a surprising circumstance that the males only are subject to this strange affection," he noted. And, he knew that women were carriers. "Although the females are exempt, they are still capable of transmitting it to their male children," he wrote.

But Dr. Otto didn't know that the passage of time would bring great potential for treatment and even a possible cure.

In the 200 years since his observations were first published, great gains have been made in the treatment of people with various types of hemophilia, thanks to advances in transfusion medicine, blood safety and a better understanding of the disease. Now a push for a cure for hemophilia has been mounted and gene therapy appears to be the way to go.

Five phase I clinical gene therapy trials are underway, and other trials are ongoing using animal models.

The National Hemophilia Foundation has set a cure for the disease as one of its goals and mounted a fundraising effort. "We think it can happen, and rather than wait to see it happen in some other disease, we'd like to see investigators try different approaches, different vectors and different gene delivery systems in hemophilia," said Glenn Pierce, MD, PhD, the foundation's president. [...]