Gene Therapy Infusions for Hemophilia B Patients

Recently, Penn Medicine published an article discussing how in the third phase clinical trial of an international study, adults with hemophilia B who received a single infusion of gene therapy saw a 71% decrease in the number of bleeding episodes. 

Hemophilia is a type of genetic disorder that slows the blood's clotting capabilities, which in turn causes spontaneous bleeding into critical areas such as joints. More specifically, hemophilia B is a type of hemophilia where clotting factor IX is not produced enough, so gene therapy is used to start the creation of clotting factor IX in the liver.

What the study showed was days after a patient's first infusion their body started to create clotting factor IX and after a year patients had a 71% reduction in spontaneous bleeding. On top of this over 45% of patients reported not having any bleeding after gene therapy. However, the most common adversive side effect of this was an immune system attack on liver cells, which can potentially be stopped with steroid treatment. The study is expected to continue for a minimum of five total years to observe all side effects, both long and short-term.

While this breakthrough could be critical for treating patients diagnosed with hemophilia B, it is important that the study continues to monitor all side effects before making this form of treatment widespread. This study as a whole is not only impressive for genetic medicine, but could be a breakthrough in treating a plethora of other diseases that have no known treatment as of now.

https://www.pennmedicine.org/news/news-releases/2024/september/gene-therapy-is-potentially-life-changing-for-hemophilia-b

https://www.pennmedicine.org/for-patients-and-visitors/patient-information/conditions-treated-a-to-z/hemophilia

https://www.pennmedicine.org/research-at-penn/gene-therapy

Gene Therapy is Now Treating Blood Disease

Hemophilia B, also called factor IX, is a genetic disorder in which factor IX is missing and prevent clotting of the blood. There is about a 0.02% chance of a live birth being affected by the disease in the United States. Each race is affected differently by the disease and different ethnicities show different frequencies of the disease affecting live births. There are vast efforts to hopefully cure the disease on day. In Britain six patients ailed with the disease were treated for it by being injected with the correct form of the defective gene. This is quite the achievement for gene therapy, especially since it began to carry a bad reputation after the early 2000's. Many doctors say that this break through could potentially bring the field of genetic therapy back into the modern medical industry.

The general concept of gene therapy consists of replacing defective genes in any genetic disease with the corrected genetic sequence. Although it sounds simple, carrying out this task is much more difficult that thought to be. The corrected gene will be placed into a virus, with the hope that the virus will inject cells and distribute the DNA. However, the immune system seems to be a little too successful with killing viruses.

With the advance that this injection of the corrected gene of factor IX has provided however, it has not only given insight on how to treat hemophilia B, but also how to possibly treat multiple other diseases in the future. This treatment has opened many doors to possibly being able to treat other genetic disorders. Also the way that this specific blood type was treated may be able to shed some light on the ability of eukaryotes to use corrected DNA sequences. A very close family friend of ours has hemophilia, and this cure if it comes to the United States could give her her life back by reducing the number of transfusions and medications she needs to take daily. I think that the cure for this type of hemophilia is ground breaking and can only further genetic technology in the medical field.

The original article can be found here.
The National Hemophilia Foundation's link can be found here.

Gene therapy may become more readily available in the near future

Recently, an article in the Science Daily stated that gene therapy should become more available as this year goes on. In the past, gene therapy was only available for the patients with the most severe diseases. A few mouths ago, gene therapy was used to treat hemophilia B, which could now replace getting regular protein infusions. It seems thought that there is still a bit more research to be done, “Although gene therapy for hemophilia B is still in early-stage clinical testing, a similar approach is in development to treat hemophilia A, and together these life-threatening diseases represent a $6.5 billion market for current protein replacement therapies.” Still, there is at least now hope of gene therapy treatment becoming more mainstream. I believe there is great hope for gene therapy in the near future, and hope that sometime very soon it is ready available.

Treatment for Blood Disease is Gene Therapy Landmark

Gene therapy hasn’t been always successful, however medical researches in Britain have had a successful gene therapy for the blood clotting disease called hemophilia B. It was done by injecting six patients that have disease with the correct form of defective gene. Hemophilia B has been around since Queen Victoria. Hemophilia B has a clotting agent known as Factor IX gene. If this gene goes bad and untreated then it can result in death. The disease occurs mostly in men since it lies on the X chromosome of which men have only one copy of and if women have it they can compensate with the other X chromosome. The trial had six patients where the doctors injected a virus into their veins. “The virus homes in on the cells of the liver, and the gene it carries then churns out correct copies of Factor IX.” (Nicholas Wade).  This would keep producing Factor IX, which would stop the blood clotting since it’s the good gene. This success had many faults and improvements over the years, but finally it worked. However, from the six patients two of them kept needing the treatment but they weren’t injected with the same virus again since the immune system was  able to attack it. I found this ironic since a virus actually helps prevent the disease from happening by giving out correct copies of the Factor IX....its actually pretty amazing how things work

Gene Therapy Breakthrough for Hemophilia B

   An article in the New York Times from December 10, 2011 says that British researchers treated 6 patients with Hemophilia B by giving them a corrected form of the defective gene that causes the disease. Hemophilia B is the first widespread disease that seems to be treatable through gene therapy. Gene therapy up until now, has not been very successful with most rare diseases. In the past, it has caused cancer in some patients, or even death.

     Gene therapy is the replacing of a defective gene in any genetic disease by using the intact version of the gene. The problem that researchers have faced is getting the gene into human cells. When using a virus to get the genes into the humans, the immune system usually kills the viruses before the gene can take effect. Finally, after many improvements developing this gene therapy, success has come with Hemophilia B. The way they were successful in getting the viruses into the patients was by using a virus that goes into the liver. Because Hemophilia B comes from a defect in the gene for Factor IX, researchers had to find a way to correct Factor IX. Hemophilia B is virtually only in men because Factor IX lies on the X chromosome, which they only have one copy of.  This treatment enables the body to produce correct copies of Factor IX.

     Patients using this new form of gene therapy have been able to produce good Factor IX for almost two years on their own. This means treatments that were costing up to $300,000 a year will now only cost $30,000 an injection. One problem they have to take care of is that they must always change the form of virus they use so that the patient will not have developed antibodies for it. Researchers are trying to find low levels of a virus that will not trigger an immune system to attack it. They feel that they are very close to finding this and will have an effective genetic treatment for Hemophilia B in a few years.