Haemophilia A story
Southampton researchers are trialling a pioneering gene therapy that could lead to a cure for patients with a rare bleeding disorder.
Haemophilia A is caused by a faulty gene which results in the body not making enough of a protein, known as factor VIII, which enables blood to clot.
The condition often leaves patients suffering excessive bruising and bleeding from minor injuries, as well as pain and stiffness within the joints, which reduces physical activity and increases the risk of early development of arthritis.
A rare condition
Haemophilia A affects mainly men and accounts for 80% of the UK’s 6,000 cases of haemophilia, with a less frequent type B caused by the lack of a different clotting factor, known as IX.
Patients currently receive weekly injections of a drug to replace the clotting protein which they require throughout their lives.
Now, researchers at the NIHR Southampton Clinical Research Facility are set to give patients a single infusion of gene therapy which will instruct the liver to start producing factor VIII protein.
It follows on from an early-stage trial of fifteen patients at five sites across the UK in 2016 which resulted in the production of near-normal levels of factor VIII without the need for medication.
“This will be an extremely important study for patients and the NHS as it has potentially life-changing implications for those living with haemophilia A,” explained Dr Rashid Kazmi, a consultant haematologist at University Hospital Southampton NHS Foundation Trust and study site lead.
“We know from our earlier study that this therapy has great potential to change the course of treatment for this patient group and we now need to run a much larger study to see if the results are replicated.”
He added: “At the moment there remain unanswered questions such as how different patients will react to gene therapy and how long the treatment will be effective for.
“There is still a way to go yet but these are extremely exciting times in the advancement of treatment options for people with haemophilia and a true possibility of working our way towards a cure.”
Posted on Wednesday 19 June 2019