A 44-year-old man has become the first patient on the NHS to receive Hemgenix, a groundbreaking gene therapy hailed as the "world’s most expensive drug." Administered at St Thomas’ NHS Foundation Trust in London, the single intravenous infusion treatment for haemophilia B costs an estimated £2.6 million per patient. This therapy replaces a defective gene responsible for insufficient production of clotting factor IX (FIX), a protein critical to blood clotting. Haemophilia B patients face severe risks of uncontrollable bleeding, even from minor injuries, and may suffer dangerous spontaneous bleeds without direct trauma.

Until now, patients with the condition required lifelong weekly injections of artificial clotting factors to manage their symptoms. The newly treated patient, who was diagnosed in infancy, described anticipation of a new life free from constant treatment planning and anxiety. “To experience a life free of the worry and to do things that I wouldn’t normally do will also be amazing,” he told MailOnline, reflecting the transformative potential of the therapy.

Medical experts and patient advocates have welcomed the NHS rollout as a major leap forward. Dr Pu-Lin Luo, the consultant haematologist who administered the treatment, called it "an exciting step" for haemophilia B management and a testament to gene therapy advancements in the UK. Kate Burt, CEO of The Haemophilia Society, emphasised that the one-time infusion will allow eligible patients to "expand their horizons and live life to the full," alleviating the burdens of frequent intravenous treatments.

Hemgenix’s approval was granted in the UK last year but yesterday marked its first use outside clinical trials by the NHS. The gene therapy, developed by CSL Behring, integrates a functional gene into patients’ liver cells, enabling the body to produce FIX naturally. Clinical studies have shown its protective effect against bleeding lasts for at least three years, with hopes for longer durability.

There are approximately 2,000 people with haemophilia B in the UK, though only around 260 with moderate or severe disease currently qualify for Hemgenix treatment under NHS eligibility criteria. Although the upfront cost is high, experts argue that over a patient’s lifetime, Hemgenix could be more cost-effective than standard care. Regular factor IX injections cumulatively cost up to £8 million per patient, excluding expenses linked to emergency interventions and surgeries. The NHS secured the drug at a confidential discount, suggesting a lower actual cost.

The introduction of Hemgenix aligns with other recent advances in gene therapies for rare blood disorders. For instance, the NHS has recently approved Casgevy, a £1.7 million CRISPR-based treatment for beta-thalassemia, marking the first UK and European use of gene editing technology. These innovations stem from growing confidence in genetic therapies despite their steep initial investment.

However, uncertainties remain. The UK’s National Institute for Health and Care Excellence (NICE) previously advised against routine NHS funding of Hemgenix due to limited long-term efficacy data and cost-effectiveness concerns. They noted difficulties in comparing Hemgenix directly with conventional factor IX replacement therapies, and the long-term benefits are still being evaluated. Patients using Hemgenix require close monitoring, especially liver function tests, to detect potential immune responses or complications. There is also a theoretical cancer risk since the gene integrates into cellular DNA, though clinical trials have not indicated any malignancies to date.

Globally, other gene therapies for haemophilia B are emerging, underscoring the competitive and rapidly evolving field. The European Medicines Agency (EMA) recently recommended conditional approval for Pfizer’s Durveqtix, a gene therapy that similarly boosts clotting protein production, priced higher at $3.5 million in the US. This therapy showed promising trial results, reducing bleeding episodes more effectively than standard infusions, and awaits formal EU approval.

Ultimately, Hemgenix represents a milestone in personalised medicine, blending cutting-edge science with complex healthcare economics and patient care considerations. As more patients gain access, ongoing monitoring and research will be crucial to understanding the therapy’s long-term impact and ensuring its benefits reach those living with haemophilia B.

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Source: Noah Wire Services