uniQure Phase III HOPE-B Trial Signals Hope for Hemophilia B Patients Everywhere


Courtesy of uniQure

In a shining moment that signaled hope for hemophilia B patients, uniQure presented data on Tuesday showing that its gene therapy treatment, etranacogene dezaparvovec (AMT-061), substantially increased production of the blood-clotting protein factor IX in nearly all pivotal Phase III HOPE-B trial participants.

In hemophilia B, a hereditary condition predominantly affecting men, suffers have either zero or less than 1% of human blood clotting Factor IX (hFIX) and therefore require FIX replacement therapy to prevent persistent episodes of internal and external bleeding. As the bleeding occurs primarily into the joints, it can lead to lasting pain and damage to especially the knees, elbows, and ankles, and can be fatal the bleed occurs in the brain. 

“Growing up with a disability was tough. Just being a little different, it was rough. It’s not like I couldn’t play sports, but I couldn’t be consistent at it, because you would always be in a hospital or be sick,” Ron Johnson, a participant in the first AMT-061 trial, told BioSpace.

Johnson added that everyday life with hemophilia B was “just constant, quote, unquote, poking yourself every week or every day, whenever you get sore.”

However, Johnson has always been able to see the silver lining.

“As a kid, you just learn how to persevere through things and it develops you as an adult where you beat life’s challenges. Me personally, growing up, you kind of feel like a why me mentality, like why do I have this? Why me? But then as you grow up and you mature, you think why not me? I can handle this. I’m more suited to handle this. I’m a strong-willed person…I can handle this, and I’m going to handle this and I’m going to get through it. And this gene therapy trial is me getting through it.”

uniQure’s presentation at the 62nd American Society of Hematology (ASH) Annual Meeting and Exhibition was a historic moment in itself, as the data was the first-ever readout of a Phase III gene therapy trial in hemophilia B and the largest set of patients ever to receive a single gene therapy investigational product. For Johnson, it was an affirmation of the medicine that has forever changed his life. 

“It’s been over two years since I’ve had to have an injection, have a shot. It’s an amazing feeling, and it’s a feeling of hope that I hope to share with everybody else who has hemophilia. You don’t have to get poked. You can live your life, you can go through life as normal, and it’s a good feeling,” said the Oaken, California-born Johnson. 

During the trial, the need for FIX replacement therapy in all patients decreased by a resounding 96%, indicating that AMT-061 has the potential to be functionally curative.

The data also showed that the study met the first primary endpoint, establishing mean FIX activity of 37% of normal at 26 weeks, with a 91% reduction in reported bleeds requiring treatment after being administered one treatment of AMT-061. Total reported bleeds decreased by 86%.

AMT-061, an adeno-associated virus five (AAV5)-based gene therapy which works by delivering the functional gene for hFIX directly into patients’ liver cells, was generally well-tolerated, and no treatment-related serious adverse events. Also notable was that uniQure accepted patients into the trial regardless of their NAbs levels, so these results illustrate the potential for AAV5 for the treatment of a wide range of diseases.

“Most patients with hemophilia B are bound to a prophylactic factor regimen of one to two intravenous infusions per week from birth through the rest of their life,” said senior study author, Steven W. Pipe, MD, a professor of Pediatric Hematology and Oncology at the University of Michigan, Ann Arbor. “Gene therapy offers the chance to liberate patients from the burden of their prior treatments, allowing for spontaneity and the freedom to do more in day-to-day life.”

Johnson shared that the HOPE-B trial also allowed him to achieve a life-long aspiration:

“Thank goodness for UniQure, because otherwise, I wouldn’t have been able to fulfill that dream I had. I’ve always wanted to step out and help other people, and this has given me the opportunity to do just that. And as far as everybody who has hemophilia, there is hope, and I want to be a symbol of that hope.”

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