First drug for rare disease APDS cleared for NHS use

Pharming's Joenja has become the first disease-modifying drug that can be used by the NHS to treat activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS), an ultra-rare immunodeficiency disorder.

The recommendation to back Joenja (leniolisib) throws a lifeline to people with APDS, who suffer severe, recurrent sinopulmonary infections, autoimmune conditions, and inflammatory damage to the small intestine. Roughly a third of patients don't live beyond 50, with blood cancers the most common cause of death.

Health technology assessment (HTA) agency NICE estimates that there are around 40 to 50 people with APDS in England who may be eligible for treatment with Pharming's drug, a PI3Kδ inhibitor which was approved last year to treat people with the disorder aged 12 and over.

Currently, treatment options for patients are limited to antibiotics for infections and immunoglobulin replacement therapy to prop up their immune systems, with some also eligible for a stem cell transplant, which is potentially curative, but associated with high morbidity and mortality.

NICE's final decision on Joenja comes after Pharming agreed to a further reduction on the £352,000 (around $468,000) per year per patient list price of the drug, which was approved by the UK medicines regulator last September.

Joenja is also approved in the US, Australia, and Israel and is under regulatory review in the EU, Canada, and other countries, according to Pharming.

The company reported $45 million in sales of the drug in 2024, its first full year on the market, with 90% of that total coming from the US market where there were 96 patients on paid therapy by year-end and five more preparing to start treatment. It has estimated that there are around 880 potentially eligible patients for Joenja worldwide.

The NHS is the first health system in Europe to offer Joenja to patients with APDS, a disease that was identified just over a decade ago.

"This is a hugely welcomed decision that will make a massive difference to the lives of people with APDS, and their families, by potentially allowing them to have a better quality of life," said Dr Susan Walsh, chief executive of patient organisation Immunodeficiency UK.

"This is a huge leap forward," she added. "We are grateful to Pharming for working with NICE to make this drug available via the NHS."

Joenja is immediately available for use and funded in England through the Innovative Medicines Fund (IMF). In Wales, it is expected to be funded within the next three months through the NHS in specialist centres, said Pharming.