[NOTE: As part of NHF’s Bleeding Disorders Awareness Campaign, NHF CEO Dr. Len Valentino has invited community members and medical professionals to “start the conversation” on gene therapy. The opinions shared in these pieces do not necessarily reflect the views of the foundation.]
The goal of curing hemophilia has been a priority of the NHF for many years. It sounds so simple, we know what DNA is, we know the irregular coding sequences that cause hemophilia, why can’t we just fix it? Certainly in 2023 with the first gene therapy drugs for hemophilia being licensed in the US and Europe we are closer to that goal than ever before. However, there are important caveats with the newly licensed therapies. Current gene therapy strategies rely on giving the body- a coding sequence, via a viral vector, to make factor VIII or IX. This approach does not work for everyone, and we see variable amounts of protein production from patient to patient. Of utmost importance, we have a lot to learn about long-term safety and efficacy with these approaches. This is not the “cure” envisioned by the NHF board years ago, but it is a tremendous leap forward in technology and certainly a cause for celebration. We have the next tool in our treatment toolbox, well before much more common genetic conditions have even reached the clinical trial stage. Through our expertise in shared decision making, HTC’s can help patients decide if these treatments are the right treatment, right now.
Of course, our sights remain set on improving and evolving therapies until we meet our ultimate goal, which is a genetic cure that is accessible to everyone regardless of age, sex, race, liver health, socio economic status or where they live. I have no doubts at the rate that gene editing techniques are improving that they will be an addition to our toolbox incoming years.
There is also no doubt that the NHF will play a huge role in our goal for cures for the diseases that we care for. There are short term roles that NHF will play in initiatives like educating and encouraging everyone to focus on liver health, advocating for access to novel therapies with insurance companies, and encouraging enrollment in long-term gene therapy registries to collect outcomes globally. There will be longer term roles that NHF will play as well. These could include working toward better testing for AAV antibodies, strategies to overcome pre-existing AAV antibodies and leveraging our research blueprint to identify and study novel approaches to cures.
Let’s celebrate our successes and keep working together toward our goal of finding cures for inheritable blood disorders and addressing and preventing the complications of these disorders through research, education, and advocacy enabling people and families to thrive.
Dr. Amy Dunn is the chair of NHF’s Medical and Scientific Advisory Committee, and a Professor of Pediatrics and Director of Pediatric Hematology and the Hemophilia Treatment Center at Nationwide Children's Hospital/Ohio State University in Columbus, Ohio.