First patient in Wales receives ground-breaking gene therapy treatment

Gosia Buzzanca

The first facility in Wales is set to administer a revolutionary gene therapy to a patient with haemophilia.

Cardiff and Vale University Health Board announced that Cardiff Haemophilia Centre based at the University Hospital of Wales will administer its first gene therapy infusion this week.

This milestone marks a major breakthrough in the treatment of haemophilia, offering new hope for patients living with this lifelong condition.

Haemophilia, which is more common in men, is a rare inherited bleeding disorder which stops a person’s blood from clotting properly due to a lack of a protein known as ‘clotting factor’.

There are two types: Haemophilia A, which affects approximately 1 in 5,000 males and Haemophilia B, which affects 1 in 30,000 males. Severe forms of the condition cause spontaneous bleeding into joints, muscles, and even the brain.

Until now, patients have relied on lifelong, preventative intravenous infusions of clotting factor—often several times a week—which can place a heavy burden on them and mean prolonged time spent in a hospital setting.

The first patient in Wales will now receive Hemgenix (etranacogene dezaparvovec), a gene therapy approved for treating adults with severe and moderately severe Haemophilia B. The one-time intravenous infusion is designed to introduce a functioning gene responsible for producing Factor IX, the clotting protein missing in patients with this form of the condition.

Cardiff Haemophilia Centre, where the treatment is being administered, has been designated as a national “hub” for gene therapy in Wales. Patients from other regions in Wales can travel to Cardiff for the one-time infusion and then receive ongoing monitoring in their local haemophilia centres, whilst remaining closely coordinated with Cardiff’s specialist team.

Consultant Haematologist Dr Samya Gwen Obaji, Adult Lead and Co-Director of the Cardiff Haemophilia Centre said: “This is a significant step forward in our ability to manage haemophilia B which could be life changing for some of our patients. It is also a testament to the advancement of treatments available to haemophilia patients in the UK and these are exciting times.

“Administering the first dose of Hemgenix in Cardiff was made possible by the support of the NHS Wales Joint Commissioning Committee and the cross-centre collaboration between Cardiff where the patient was treated, and Singleton Hospital, Swansea their local haemophilia centre. We are extremely proud to be able to deliver this therapy in Wales.”

The therapy allows patients to potentially achieve normal or near-normal levels of Factor IX, meaning they may no longer need regular prophylactic treatment or suffer from spontaneous bleeding episodes that can damage joints and lead to disability.

First in Wales

Nigel, who was diagnosed with haemophilia at just eleven months old and is the first patient in Wales to receive the gene therapy, said: “Having the opportunity to receive gene therapy is so extraordinary. This is pioneering treatment and being first is an honour, but also a responsibility.

“I am deeply aware that my experience will help inform what comes next for others in Wales and beyond.

“I have had a weekly injection to stop my bleeds for as long as I can remember but being the first person in Wales to receive gene therapy for haemophilia B has meant an end to that.

“This is not a cure in the traditional sense, but it means I don’t have to inject myself weekly anymore. Instead of repeatedly replacing the missing clotting factor, gene therapy gives my body the instructions it has always lacked — enabling it to produce factor IX itself

“Most of all, I feel proud — proud of how far treatment has come, proud of the clinicians and researchers who made this possible, and proud to stand at a moment where living with severe haemophilia B may finally begin to look very different.”

Although other new treatments have improved quality of life, they still require additional management for breakthrough bleeding or surgical interventions. Gene therapy represents a paradigm shift, offering the potential for a functional cure rather than ongoing treatment.

In Wales, the delivery of Hemgenix is being supported by Advanced Therapies Wales through coordinated, system-wide efforts, including the funding of key roles to build clinical and operational capacity.

Outstanding dedication

Suzanne Rankin, Chief Executive of Cardiff and Vale University Health Board and Senior Responsible Officer for the Advanced Therapies Wales Programme said: “We proudly acknowledge the outstanding dedication of Haemophilia Centre and Pharmacy team at the University Hospital of Wales, whose expertise and compassion have been central to delivering exceptional patient care.

“Their tireless commitment has ensured that individuals living with haemophilia receive the highest standards of treatment and support.

“We also extend heartfelt thanks to our valued partners, including Advanced Therapies Wales and NHS Wales Joint Commissioning Committee, whose collaboration and support have been vital in strengthening services. Together, these efforts reflect a shared mission to improve lives and advance care.”