03 Jul Cracking The Genetic Code To Cure Hemophila B, A Rare Bleeding Disorder
Hemophilia B is a rare genetic bleeding disorder that prevents the body from naturally forming blood clots. When patients with hemophilia B undergo surgery or experience an injury, they typically bleed heavily for an extended period of time. Even in some more severe instances, patients experience heavy bleeding even just after a small, minor injury or with no injury at all. 1
- These events can lead to serious complications and uncontrollable bleeding into the joints, muscles, brain, or even other internal organs, resulting in permanent physical damage to the body.
Those who suffer from hemophilia B are known to inherit an X-linked recessive genetic pattern, which is a result of mutations found within their F9 gene.1 Hemophilia B Leyden is a rarer form of hemophilia B found in children and adolescences that experience periodic episodes of excessive bleeding typically until puberty. Current treatment options for such patients typically involves continual intake of FDA-approved medication and injections, such as AlphaNine Alprolix, BeneFix®, and Monodine, all of which incorporates a recombinant form of coagulation factor IX, an important protein in the blood clotting cascade that plays a vital role in blood coagulation. Such medications and injections are typically introduced during surgery to prevent hemorrhagic episodes in patients to control excessive bleeding.
To date, there are currently no cure or vaccine able to prevent hemophilia B. However, many doctors and researchers are developing novel therapeutics and innovative treatment strategies to find a cure for this rare genetic disorder.
- In one example based on a recent 2018 publication, scientists at the Salk Institute reported a study that focused on a new treatment given to mice with high potential to treat hemophilia B for life with the introduction of just only one single injection.2
In this article published in Cell Reports, Salk scientists developed an innovative treatment with disease-free liver cells able to produce the coagulation factor IX. Prior to introducing the treatment in mice, scientists demonstrated this proof-of-concept model in hepatocyte-like cells (HLCs), which were harvested from stem cells from hemophilia B patients. Untreated cells were reported to show very low levels of coagulation factor IX whereas cells harvested from the same line treated with a gene-correcting tool showed healthy levels of the coagulation factor IX.
Although this injection is currently in its early stages of development, if similar results and efficacy can be replicated in human trials down the road, this may be a promising breakthrough in producing new cures for hemophilia B, as well as potentially other similar rare genetic disorders.
- A beneficial advantage to developing new therapeutics and personalized medicine using stem cells harvested from patients themselves is the ability to limit or even completely avoid any complications from the body’s immune system, which currently remains to be a large obstacle in new cell therapies and small-molecule treatments.
Much work still remains to be completed before this technology will be used in clinical trials but these preliminary results hold promising potential for this innovative injection to completely transform the way doctors and scientists approach to medicine and finding cures for rare genetic disorders.
The Regenerative Stem Cell Institute (TRSCI) is heavily involved in these ground-breaking discoveries that utilize these new strategies using stem cells harvested from patients to develop personalized medicine and therapeutics to address these types of genetic disorders. If scientists and doctors are able to crack the code to reprogram genetic disorders to prevent these debilitating, life-threatening conditions, patients will have access to less expensive treatment options to improve their standard of living.
2- Salk Institute. “Single injection treats hemophilia B for life, in proof-of-concept study.” ScienceDaily