Writing Assignment #5
Jordan Johnson
Professor Rinehart-Kim
Bio. 294 Genetics
12/05/2024
Writing Assignment #5
Hemophilia B, an uncommon bleeding disorder, is defined by the decrease in production of the clotting factor IX. A massive leap in progress for a solution to this disorder has been made with the development of new gene therapy known as Beqvez (fidanacogene elaparvoves). It has been shown to massively reduce the bleeding episodes of patients, with remarkably noting the majority of the patients procured no episodes post-treatment. Another important note is Beqvez is a single infusion dose, compared to current gene therapies in which patients require weekly, or even daily, dosages of factor IX.
These claims can be backed up by a scientific study done by Dr. Adam Cuker and a team of other researchers. The study examined a group of men aged 18 to 65 with Hemophilia B, displaying low levels of factor IX, and who previously received regular doses of factor IX. The researchers wanted to compare results of previous gene therapies to Beqvez and the safety of this new therapy. Each patient received a single dose of Beqvez according to body weight, 5×10^11 vector copies per kilogram of body weight. The study resulted in an overwhelming positive outcome, having bleeding episodes reduced by 71%, from averaging 4.42 episodes per year to only around 1.28 episodes. Beqvez works by employing a vector that transports a transgene production of FIX-R338L to the patient’s liver, which facilitates the body to produce its own clotting factor IX. This emerged in patients having factor IX levels similar to those in mild and normal hemophilia cases. These researchers are also working on an ongoing study to look into the longer term effects that may be caused by this new therapy.
In this Genetics class, we have learned that Hemophilia has a x-linked recessive model of inheritance. This gives insight on why men were chosen to be studied for this case. Males only possess one X chromosome which is why they are more likely to contract this disorder.
Although this is not a cure for Hemophilia B, it is a great step forward in finding solutions for these patients. Instead of the worry of regular infusions required ,and their cost, patients would only need one dosage; and may get to experience life without Hemophilia.
References
Thompson, D. (2024, September 26). Trial Confirms ‘Life Changing’ Impact of Gene Therapy for Hemophilia B. U.S. News & World Report. HealthDay. Retrieved from
Cuker, A. et al. Gene Therapy with Fidanacogene Elaparvovec in Adults with Hemophilia B. The New England Journal of Medicine. DOI: 10.1056/NEJMoa2302982 (2024)