Children's Hospital of Philadelphia played key role in developing new treatment for hemophilia
People with the bleeding disease hemophilia now have a breakthrough treatment option developed from research at Children's Hospital of Philadelphia.
The gene therapy works with one infusion. It doesn't cure hemophilia, but it makes it a whole lot safer and easier.
Domenic Catrine doesn't have to worry anymore about getting scratched while playing with his dog.
"I'm extremely blessed and grateful," Catrine said.
The South Jersey college student was born with hemophilia B – a rare condition that can cause dangerous bleeding because the blood doesn't clot properly.
"You never know what can happen, what can cause a bleed," Catrine said. "It can be a little scary living with hemophilia."
As a little boy, Catrine wore a helmet to reduce the risk of bleeds and also had to get regular infusions to control the condition.
"Poking myself every week was not something I was very happy with doing," he said.
Now, the 21-year-old doesn't have to rely on infusions. Catrine is the first patient to get a new Food and Drug Administration-approved gene therapy called Hemgenix.
"It's put me in a better position and a better position to live life more freely," Cartine said.
Research at CHOP, where Catrine was treated, was instrumental in developing the gene therapy.
"I think this is a huge development, but it's been three decades in the making," Dr. Ben Samelson-Jones, a CHOP hematologist, said.
Samelson-Jones said patients like Catrine have a missing gene that causes the bleeding disorder. The gene therapy replaces it.
"What it does is certainly converts patients from what we call the severe disease, where you're at risk for having spontaneous, potentially life-threatening bleeds to a much more mild disease, where you would only need additional treatment if you had major trauma or surgery," Samelson-Jones said.
Catrine said it was an easy one-time injection, with no side effects. Now, he doesn't have to worry about injuries or getting regular infusions.
"I never imagined a world where I wouldn't have to infuse in some way," Cartine said. "That was mind-blowing to me."
Catrine isn't cured but now has what he calls a more normal life.