The Holy Grail of hemophilia treatment


Over more than two decades of science writing, I’ve seen a lot of my past writings rendered obsolete by scientific progress.

Case in point: the release last week of a research report on exciting new progress in gene therapy for hemophiliacs.

Back in 2001, I wrote a book on hemophilia for the Enslow Publishers series Diseases and People (<brag>School Library Journal called it: “An excellent resource for basic research for personal or academic use.”</brag>).

Gene therapy—the insertion of genes into living cells in the human body to treat disorders—has always seemed to hold particular promise for the treatment of hemophilia because it is a genetic disease: you can’t catch it, you can only inherit it.

What is hemophilia? Allow me to quote my own book:

“Hemophilia is a disease in which a person’s blood does not clot properly. People with hemophilia do not produce enough of one of several proteins in the blood called clotting factors.  The body needs these factors to stop bleeding after an injury. Without these factors, bleeding lasts longer than it would otherwise…

“Hemophilia affects males almost exclusively. About one in 5,000 boy babies has hemophilia. It is passed on from generation to generation by women who may or may not show bleeding-related symptoms themselves. In about one third of the cases, there is no family history of hemophilia…

“The primary symptoms of hemophilia are abnormal bruising and bleeding. In toddlers, falls and bumps may cause skin bruises and bleeding from the lips and tongue. In older children and adults, bleeding may involve muscles and joints, producing painful swelling and hindering movement. If early treatment is not given, this bleeding can result in permanent joint damage.  Head injuries are particularly dangerous for hemophiliacs…bleeding into the brain can be fatal. Bleeding may also occur in the face, neck, or throat, obstructing breathing. Bleeding from the mouth, gums, and the nose may be troublesome, as well…

“The standard treatment in the event of bleeding is to inject the hemophiliac with the missing blood clotting factor, made from either donated plasma or by using recombinant gene technology. This can be done on a regular preventative basis, usually three times a week, just before undertaking an activity that could cause bleeding, or as needed to treat episodes of bleeding…

Hemophilia is, in short, a nasty condition indeed. Prior to the First World War, the average lifespan for a boy with hemophilia was 11. Prior to 1968, it was only 20. By 1983 it was 64…but during the 1980s it dropped again due to the impact of AIDS, which hemophiliacs contracted through the injection of blood clotting factor made from donated, infected plasma (young Ryan White, who graces the cover of my book, was one of the most high-profile victims).

Since 1999, the average lifespan has been normal, but treatment still involves regular injections of clotting factors.

The only way to cure hemophilia would be to replace the missing genes that code for the production of clotting factors…and that’s precisely what researchers from the University College London Cancer Institute and the St. Jude Children’s Research Hospital in Memphis have just reported success with.

Their technique used a modified adeno-associated virus, or AAV (which infects human cells but doesn’t cause disease) to insert the gene which produces clotting factor IX (FIX), into liver cells. Their test subjects were six people with severe Hemophilia B. (About one in five people with hemophilia have Hemophilia B; the more common Hemophilia A, which involves a different clotting factor, offers a more complex target for gene therapy, so much of the research has focused on Hemophilia B.)

Before the therapy, the six patients all produced FIX at less than one percent of normal levels. After the therapy, each produced FIX at between two and 11 percent of normal. In the short-term follow-up of six to 16 months, four of the participants no longer needed infusions of FIX at all, while the other two required them less frequently than before.

Molecular Therapy magazine, reporting on preliminary results of the study back in March, enthused that it represented nothing less than the “holy grail” of hemophilia gene therapy.

It also renders my 10-year-old book out-of-date. But you know what? After researching all the tragedy and suffering hemophilia has caused down through the years, I’m okay with that.

I just hope all the other books I wrote, on Alzheimer’s disease, arthritis, meningitis and Ebola, are also rendered obsolete—the sooner, the better.

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    • Angie Hendrickson on January 8, 2012 at 12:49 pm
    • Reply

    Hey Edward and all, sorry for the above typos. I am in a horrible rush but this was too important not to post even in haste.

    • Angie Hendrickson on January 8, 2012 at 12:36 pm
    • Reply

    Hello Edward,
    I am one of the “old generation” members of the hemophilia community. I am almost 52 years old, a symptomatic carrier. My frist brother died in 1963 from a hemophilia related brain injury when he was 18 months old before they had cryoprecipitate or factor products. My 22 year old brother Kirk died of a brain annuerism in 1988. He was HIV+. My only son, Brandon died of a brain virus the day after his 19th birthday in 2002. He was infected with HIV as an infant, HCv followed and then I started to receive biological recall notifications that he had used factor products that were possibly infected wit CJD and vCJD. “They” say my son died of AIDS-related PML but I have never accepted that. I believe it was a brain virus realted to CJD and vCJD. I have always suspected that the concerns over CJD and vCJD come not so much from donors who ate mad cow hamburgers in London but that they did a cross-species jump of a zoonoses into humans with the early recomibant products/viral vectors. I have done my research but that story is too long to tell here and is not the reason I am posting but is related and when you read the links I am providing, I believe as a smart and educated man, you will indeed get my gist. Time will tell on this one. There is a reason the CDC, US and UK intiated the Joint CJD survelliance Project in 1997 asking for CSF or post mortem brain biopsy samples from any person with hemophilia who dies of a brain disorder and I believe is also the reason behind the big push to get away from all factor products using mammillian source protiens. All mammels have prions in their bodies and prions are the causitive agent of the degenerative brain diseases like mad cow and CJD. Also some of the viral vectors they use are retroviruses (HIV) lentiviruses( mad cow/cjd, etc) What does all this have to do with gene therepy? Same/same…risks from viral vectors. Like everyone else, I certainly HOPE and PRAY that these gene therepay trials will be successful and that someday in the near future, there will be a cure for all bledding disorders. What concerns me about all the new biotech is that they always only toot the positive and don’t ever talk about the risks. They did that with us and the early recombinants. I just caution all consumers to learn ALL the facts and possible risks BEFORE rushing into any trials. So, here are the known RISKS of gene therepy that nobody seems to be publishing anything about. Keep researching, keep writing, Edward!!!! Respectfully,
    Angie Hendrickson

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