Haemophilia never lets up, so neither can we

Gene therapies offer a potential life change for patients with haemophilia B, and we won’t rest until similar rare diseases can be relieved or even cured.

Haemophilia: what is the potential breakthrough?

Haemophilia B is a rare, severe, blood disorder that affects patients from birth. A faulty gene means the body cannot produce the protein Factor IX, which is needed for blood clotting. Gene therapy aims to repair the direct cause of genetic disease by introducing DNA into cells to compensate for abnormal or faulty genes. Gene therapies have the potential to relieve or even cure rare diseases where the patient’s quality of life and prognosis are poor, and this may remove the need for surgery or life-long medical interventions.

How will it help patients?

If left untreated, patients with haemophilia B can suffer severe bleeding. Current treatment means patients need infusions every 3 to 7 days for their entire lives, at great discomfort. Gene therapy may improve quality of life by reducing the burden of intensive and life-long treatment, and it may also reduce the risk and stress of bleeding.

How many patients could it help?

Around 8,000 people in Europe have haemophilia B, of which 60% live with a severe form of the disease, putting them at risk of bleeds. Gene therapy Phase I/II trials have seen results sufficient to transform the disease into a mild form, while further trials could see a cure. In time, gene therapy approaches could also tackle other diseases like cancer and infections.

What is the potential impact on Europe’s healthcare systems?

The cost of current treatment is approximately €6 million over a single patient’s lifetime. Gene therapy could decrease emergency hospitalisations by reducing the number of patients suffering serious bleeds. It could also lessen the burden on infusion clinics and cut drug expenditure.

What might need to change in health service delivery?

Not all aspects of innovations fit the traditional pharmaceutical delivery pathway, and therefore, it is necessary to upgrade or develop new infrastructure to bring innovative therapies to patients. For example, upfront reimbursement for gene therapy is a challenge because there is currently limited evidence of lasting clinical or economic benefit, leading to uncertainty around its value. In the future, new finance schemes and integrated budgets may help to fund this type of innovation.