Has gene therapy arrived?

January 16, 2012

Mark L. Friedman, MD, FACEP, FACP

A major advance in both treatment for hemophilia and the emerging field of gene therapy has recently been documented in an article in the New England Journal of Medicine.


Researchers in the United Kingdom used a virus to insert a DNA segment into hemophilia patients and essentially repair the defective DNA in a small number of cells that produce a blood-clotting protein know as factor IX. The result was a decrease, or in some cases total elimination, of the debilitating and even life threatening bleeding episodes that occur in hemophiliacs.

Hemophilia B (factor 9 deficiency) is an X linked bleeding disorder (meaning the disease predominantly affects males while females are unaffected "carriers") that was famously passed from Queen Victoria to many of 19th and 20th century European royal families and arguably may have changed the course of history. That aside, it has inflicted suffering and death on lesser mortals for millennia (the first mention of it occurred in the Babylonian Talmud nearly 2,000 years ago).

While the ability to treat hemophilia (with infusions of the missing clotting factor proteins) since the late 1960s has been a major medical advance, a cure has been elusive. Until now.

Should we start looking for the "cure" on pharmacy shelves next week? Not quite, but my prediction is, "Soon." Annual therapy for hemophilia in the US can run anywhere from $150,000 to $300,000 for medication alone. The lifetime costs can be as much as $20 million. The cost for this new, for now "experimental" therapy promises to be an order of magnitude less. As opposed to many costly "experimental" therapies resisted by the payers of medical bills, I predict insurers will be rushing their hemophiliacs into this therapy as soon as it becomes widely available.

Why should this be of interest to the average person? It provides a wonderful example of the current rapid progress in medical treatment (in this case related to gene therapy). So rapid, in fact, that many"“if not most"“physicians can remain ignorant of the state of the art for months or even years. I myself missed this article when it first appeared, because I did not run across it in the mainstream media. Had I not picked up an old NEJM today at breakfast I could easily have overlooked it completely.

In this age of information overload and logarithmic medical change it may be up to the individual patient to monitor the latest literature on diseases of personal interest and help his doctor stay up to date.

Originally published Jan 16, 2012 12:31:11 PM.