A Patient’s Perspective

2014 gene therapy workshop
Author: Grant Hiura, NHF Education Coordinator

I attended the National Hemophilia Foundation’s (NHF’s) 12th Workshop on Novel Technologies and Gene Transfer for Hemophilia at Georgetown University in Washington, DC, on October 24–25, 2014. Held approximately every other year since 1996, the workshop invites more than 100 leading researchers and clinicians from across the world to present their progress with new treatments and gene therapy in the field of blood disorders.

Organized by co-chairs Glenn Pierce, MD, PhD, and Katherine High, MD, and NHF’s Research and Medical Information Department, the workshop was dedicated to ­discussing the hard science behind these innovative therapies. This large-scale “journal club” covered several central themes, including subcutaneous therapies, longer-lasting­ factor products and inhibitor treatment alternatives. It also covered gene therapy models, clinical trial data, and the immunological consequences of new therapies.

The two-day workshop was an ­academic marathon for the 50 presenters. Seeing the connections between these sometimes obscure projects made me realize that the scope of medical research on hemophilia was much wider than I expected. One experiment used inhibitor-prone dogs as test subjects, while another explored injecting viral vectors into the retina. With the rapid-fire pace of the presentations, I came to understand how each study served a specific role in contributing to developing a cure for hemophilia.

Although the workshop put academia, not psychosocial or medical issues, on center stage, the same camaraderie that exists between patients and caregivers in NHF’s Annual Meeting roundtable sessions was evident in that Georgetown conference center. Many of these researchers had collaborated with each other over the past 20 years, regularly citing each other’s publications in their brief presentations.

As both a patient and someone pursuing a career in the health field, I felt incredibly humbled to catch a glimpse of this separate sphere of the bleeding disorders community.

New therapies

The progress of new subcutaneous therapies, a relatively painless injection into the fatty area just below the skin’s surface, to treat hemophilia A and B, including those with inhibitors, could offer a prophylactic treatment solution for those with difficult veins or medical ports. With the buildup of scar tissue at my usual infusion sites, I saw the appeal of subcutaneous therapies not only for myself but also, more importantly, for young kids with medical ports.

Possible treatment alternatives for hemophilia patients with inhibitors were also explored. Researchers from Biogen, CSL Behring and Novo Nordisk discussed the science behind their new prolonged half-life factor VIII (FVIII) and factor IX (FIX) products. The methods generally consisted of fusing the recombinant FVIII or FIX proteins to a molecule that extends the factor half-life by protecting it from being degraded in the bloodstream.

Gene therapy defined

As a potential alternative to intra­venous infusions, gene therapy swaps a “bad gene” for a “good gene” by inserting an engineered piece of genetic material (DNA or RNA) into specific target cells in the body. To deliver these genes, researchers package the good genes into a “viral vector,” an inactivated virus that transports the gene into healthy cells without provoking an unwanted immune response.

Although gene therapy trials are succeeding in patients with severe hemophilia B, they are not yet being performed on those with hemophilia A. Simply put, FVIII is a bulkier and less stable protein than FIX, making it more difficult to manipulate in the laboratory. As FIX gene therapy research continues to progress, we should see further development in FVIII research.

One of NHF’s greatest strengths is its ability to bring groups together. Continued collaboration at venues like this workshop is the key to improving existing therapies and developing a cure for hemophilia.