We are one step closer to a cure for hemophilia according to the results of a groundbreaking gene therapy trial published in the New England Journal of Medicine.
Clinical researchers at the Queen Mary University of London and Barts Health NHS Trust have found that over one year after a single gene therapy treatment, patients with hemophilia A are showing normal levels of the previously missing blood clotting factor, effectively curing them.
A single infusion gene therapy treatment improved levels of the essential blood clotting protein Factor VIII, with 85 percent of patients achieving normal or near-normal levels of the blood clotting factor, even many months after treatment.
Life Before Gene Therapy
The National Hemophilia Foundation reports there are around 400,000 people worldwide with hemophilia A, with 20,000 in the US alone. An inherited genetic condition primarily affecting men, and people with hemophilia A lack the protein factor VIII which is essential for blood to clot.
Those with the disease are at risk of excessive bleeding even from the slightest injury as well as spontaneous internal bleeding, which can be life-threatening. Recurring bleeding into joints can also lead to progressive joint damage and arthritis. There is no cure for hemophilia, and the only treatment requires multiple weekly injections to control and prevent bleeding.
Gene Therapy ‘Changed the Life’ of Jake
Twenty-nine-year-old Jake Omer from the UK was in the trial and says he feels like he has a new body. Jake was diagnosed with hemophilia A at the age of two and has frequent injections of factor VIII to prevent bleeding ever since. Before Jake was treated with the gene therapy, he would wake up early three times a week to inject himself. As well, he had to inject factor VIII whenever he had an injury. Jake has arthritis in his ankles as a result of repeated bleeding.
However, in February 2016, Jake had a single gene therapy infusion, and it changed his life. The first time he knew the therapy had worked was four months after the treatment when he dropped a gym weight and injured his elbow. Jake started to panic, but iced the injury and found that everything was normal the next day. In Jake’s own words:
“The gene therapy has changed my life. I now have hope for my future.” adding “At 23 I struggled to run 100m to catch a bus; now at 29 I’m walking two miles every day which I just couldn’t have done before having the gene therapy treatment.”
“Mind-blowing” Results of Gene Therapy Trial
The “mind-blowing” results are the first successful gene therapy trial for hemophilia A. The researchers used a viral vector to transfer a functional copy of the gene that produces factor VIII into the patient’s body. After injecting the trial participants with a copy of the missing gene, they then followed the patients for up to nineteen months. Tests show that 11 out of 13 trial participants gained normal or near normal levels of the missing blood clotting factor. All 13 patients have been able to stop their previous treatments of weekly injections.
Professor John Pasi, Director of the Hemophilia Center at the Barts Health NHS Trust and a Professor of Hemostasis and Thrombosis at the Queen Mary University of London explained:
“We have seen mind-blowing results which have far exceeded our expectations. When we started out we thought it would be a huge achievement to show a five percent improvement, so to actually be seeing normal or near normal factor levels with dramatic reduction in bleeding is quite simply amazing. We really now have the potential to transform care for people with haemophilia using a single treatment for people who at the moment must inject themselves as often as every other day. It is so exciting.”
The research team will conduct additional clinical trials to include patients in the USA, Europe, Africa and South America. Professor Pasi added:
“Incredibly exciting is the potential for a significant change in how haemophilia is treated globally. A single dose of medication that can so dramatically improve the lives of patients across the world is an amazing prospect.”
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Cover illustration courtesy of NHGRI.
The Queen Mary University of London, Groundbreaking gene therapy trial set to cure hemophilia. [Press release.] The Queen Mary University of London via EurekAlert. 14-DEC-2017. Link.
Savita Rangarajan, M.B., B.S., Liron Walsh, M.D., Will Lester, M.B., Ch.B., Ph.D., David Perry, M.D., Ph.D., Bella Madan, M.D., Michael Laffan, D.M., Hua Yu, Ph.D., Christian Vettermann, Ph.D., Glenn F. Pierce, M.D., Ph.D., Wing Y. Wong, M.D., and K. John Pasi, M.B., Ch.B., Ph.D. “AAV5-Factor VIII Gene Transfer in Severe Hemophilia A.” New England Journal of Medicine. December 9, 2017. DOI:10.1056/NEJMoa1708483. Link.
Diagnosis, Treatment, and Advice: This article is intended for educational and informational purposes only and is not a substitute for qualified, professional medical advice. The information and opinions provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. The gene therapy to treat hemophilia A depicted herein is considered experimental. Experimental therapies carry a much higher risk than FDA-approved ones. Consult a licensed and qualified physician for the diagnosis and treatment of any and all medical conditions. Call 911, or an equivalent emergency hotline number, for all medical emergencies. As well, consult a licensed, qualified physician before changing your diet, supplement or exercise programs. Photos, Endorsements, & External Links: This article is not intended to endorse organizations, companies, or their products. Links to external websites, mention or depiction of company names or brands, are intended for illustration only and do not constitute endorsements.