Скачать или смотреть BBC News at One : Haemophilia Gene Therapy Breakthrough - 14th December 2017

Haemophilia Gene Therapy - Thursday 14th December 2017

Scientists believe they are on the way to finding a cure for haemophilia A, the bleeding disorder that currently requires sufferers to inject themselves every other day to avoid life-threatening complications.

One dose of a gene therapy given experimentally to 13 patients by NHS doctors in the UK has allowed them all to come off treatment. These were men – most sufferers are – who would not only bleed without stopping from an injury but would bleed into their joints even in their sleep causing pain and disability, without frequent injections of a clotting factor. None of them now bleeds spontaneously in that way.

“I think it’s a huge step forward,” said Professor John Pasi, Haemophilia Centre director at Barts Health NHS Trust and one of the authors of the study. “Gene therapy for haemophilia has historically been the Holy Grail. Our patients have to treat themselves at least three times a week and even then they may still bleed. The treatment burden is massive.

“The opportunity to give them a one-off treatment perhaps for a lifetime but maybe for many years is a huge opportunity. It could transform their care.”

Patients were recruited from around England and all injected with a copy of the single gene responsible for causing blood to clot, which they were missing at birth. The treatment given at a low dose in the first two patients did not work. But the 13 subsequently treated at a higher dose have all stopped their regular injections. More than a year on, 11 of them have levels of the blood clotting protein Factor VIII that are at or near normal.

Broadcast time : 1.17pm - Running time : 2.22