One dose of gene therapy that was given experimentally by 13 British patients by the British NHS physician left them untreated. These people are the majority of patients who not only do not stop bleeding because of injuries but also bleed into their joints during sleep, causing pain and disability without frequent injections of clotting factors. None of them now bleed spontaneously in this manner.
Professor John Pasi, Director of the Hemophilia Center at Barts Health NHS Trust, said: “I think this is a huge improvement and one of the authors of the study.” Hemophilia gene therapy has historically been the Holy Grail. Our patients should be treated at least three times a week at least, and even then they may bleed. The burden of treatment is heavy.
“The chance of giving them a one-time treatment may be a lifetime, but perhaps for many years is a huge opportunity to change their concerns.”
Patients were recruited from near the UK and all were injected with a copy of a single gene that caused blood to clot, which was missing at birth. The first two patients were ineffective at low doses. However, subsequent treatment with higher doses of 13 cases have stopped regular injection. Over a year ago, 11 of the blood coagulation factors, Factor VIII, were at or near normal levels.
The results of nine trials in patients will be published in the New England Journal of Medicine, along with editorials by Dr. H Marijke van den Berg, vice president of the World Federation of Hemophilia. She welcomed the trial, and the second gene therapy study was “Gene Therapy for Hemophilia” in patients with rare hemophilia B.
She pointed out that if the treatment was complete, she wrote: “Children born with this devastating disease can benefit from life without bleeding.” In developing countries, the inability of patients to gain access to coagulation products is particularly welcome.
Globally, about 400,000 people have been affected by various types of hemophilia. About 2,000 people in the UK have severe hemophilia A. The most famous patient in history was Alexei Tsarevich, a young Russian who suffered from hemophilia B and whose treatment and the treatment of Rasputin monks were often associated with the decline of the royal family.
Scientists have long believed that it should be possible to find gene therapy for hemophilia, but that will take years of unsuccessful attempts. One of the major problems is finding the right virus as a delivery vehicle or carrier. Researchers use an adeno-associated virus that does not cause illness, but can exclude people who had previously encountered the immune system.
Thirteen patients will be closely followed to find out if the treatment is ongoing and require a larger trial before treatment is approved. That is the cost issue. “It will be a very expensive treatment,” said Pasi. “The current average cost of treatment in the UK is ￡ 100,000 per person per year, and you can see what numbers you can record. It’s an elephant in the room.”
Jake Omer, 29, lives in Billericay with his wife and two children and has been living with hemophilia. In the past 18 months, after joining the trial, he no longer needs intravenous fluids. He said his coagulation factor VIII levels are above the average on the street.
“It means I do not have hemophilia anymore, it’s crazy,” he said.
When he was diagnosed, Omer was two. “When I was young, I was cooking, I was in the kitchen, my lips were cut off, the bleeding did not stop, and after a day or two of the blood wakes up, I was taken to the hospital,” he said. The life of Romford’s parents became one of the anxieties and frequent trips to Royal London Hospital.
He said: “They had to drive me to London’s Royal District and hold me in.” “I go back and forth every couple or three weeks.” His mother gave him fluids when he was six or seven years old The situation got better, and when he was 11, he himself was able to transfuse better. “But you always have to be more careful than your peers when climbing trees or skipping things on your bike.”
As an adult, he can only holiday in countries with excellent hemophilia centers, just in case. Bleeding that occurs in the joints causes ankle arthritis.
He said: “Gene therapy has changed my life.” I now have hope for my future. Now, I hope it will be incredible when I play with kids, play football, climb trees, and get into their teens or even farther. My ankle arthritis means I used to worry about how far I can go as soon as I turn 40. At the age of 23, I tried to run 100 meters to take the bus; now at 29, I walked two miles a day, and I could not do it before doing gene therapy. “