Friday, December 3, 2021

Gene Therapy could be a big advance against Hemophilia


Hemophilia A is a medical condition where blood clotting is easily reduced, causing the patient to bleed severely, even from the slightest injuries. Currently, the only way to care for patients with Hemophilia A is by regular infusions of FVIII protein into their bloodstream.

A new adeno-associated viral (AAV) gene therapy that helped to enable hemophiliac patients to express the FVII protein in their livers. One study trialed 18 hemophilia A males, between ages 18 to 52, that were infused with four different doses of SPK-8011. Most of these participants also took steroids because previous research showed that many patients developed an immunity to the AAV vector and eventually eliminating it and in turn, expressed FVII.

16 out of the 18 patients were able to maintain full FVIII expression for the entirety of the trial and 12 of those patients were observed for more than two years and had no decrease in FVIII activity. 

Overall, the patients had a 91.5% success rate in reduction in excessively bleeding. However 2 of the patients did lose the expression within a year. This proves that the steroids aren't guaranteed to prevent a loss of expression, however, there are no major safety concerns throughout the study.


  1. Although this isn't a cure-all, this seems like a huge stride in the right direction. It may not have worked on some as you said but I'm sure for the majority that it did work on it really changed their lives for the better. Great job!

  2. Lynn,
    I had not heard about this gene therapy before, but it is quite fascinating how medicine is making great strides to find a cure for Hemophilia A. Although it is quite unfortunate that individuals have to deal with this medical condition, it was great to read that the success rate is so high and many patients were able to maintain full FVII expression for the entire trial. Awesome work!

  3. This is great! I wonder if it would help other bleeding disorders too like von Willebrand disease.