According to a story from eurekalert.org, a recent test study suggests that patients with hemophilia B could be treated with just a single injection over the course of their lives. While the study was conducted on mice and was primarily meant as a way to test the feasibility of the idea, the results of the study were promising.
Hemophilia B is one of two main types of hemophilia, a genetically inherited blood disorder in which the body in unable to form blood clots. Hemophilia A and hemophilia B are distinguished from one another by which clotting factor is missing or deficient in the patient. Hemophilia B patients are missing clotting factor IX, whereas hemophilia A patients are missing factor VIII. Certain cancers, autoimmune disorders, and rarely pregnancy can cause someone to acquire hemophilia. Symptoms of hemophilia include bleeding for longer after an injury, bruising easily, and an increased risk of bleeding in the brain or joints. Hemophilia B is considerably rarer. Treatment usually involves replacing the missing factors with periodic infusions. To learn more about hemophilia B, click here.
The new, single injection treatment consists of healthy liver cells that are able to produce the clotting factor IX at normal levels on their own. This could have major implications for patients, who currently must receive periodic infusions of the missing clotting factor in order to manage their hemophilia B. With a single injection, their quality of life would improve significantly. If the new injection is able to live up to its potential, it is possible that similar treatments could eventually become available for patients with hemophilia A or other related disorders.
In order to create the healthy liver cells, scientists obtained blood samples from patients with severe cases of hemophilia B. These cells were then transformed into stem cells. Then, with the use of all-new CRISPR technology, they were able to fix the mutations in the cell that cause hemophilia. Then these stem cells were developed into precursor hepatocyte-like cells which were then transferred to the bodies of the mice.
The cells were able to produce factor IX at normal levels for over year, essentially eliminating the effects of hemophilia B. Using a patient’s own cells helps avoid potential immune system complications that often come with cell based therapies.
While the outlook is definitely promising, more study and research will have to be done before this procedure can be tested on humans.