The field of rare disease medicine remains a largely untapped area open for pharmaceutical and biotech companies to develop new treatments for thousands of diseases that lack approved therapies, the head of one of the world’s largest rare disease drugmakers has said. Marc Dunoyer, chief executive of Alexion, the US‑based rare disease subsidiary of AstraZeneca, said patients living with about “95 per cent” of the “10,000 identified, specific rare diseases” do not have medicines available to them.

“[The] rare disease world is an immense field of new opportunities,” said Dunoyer, who has led Alexion since it was acquired by AstraZeneca for $39bn in 2021. Rare disease medicine sales accounted for 16 per cent of AstraZeneca’s $58.7bn revenue last year, making it one of the company’s biggest divisions as it aims for a $80bn revenue target by 2030 and plans to launch 20 new medicines by then.

Alexion has leveraged its parent’s global reach to expand to 80 countries from the 20 it served as an independent firm. Recent positive trial data for efzimfotase alfa, a drug for hypophosphatasia, underscores pipeline progress. Dunoyer acknowledged pricing negotiations take time but noted regulators increasingly recognise the long‑term savings of these therapies.