NICE Recommends Pharming's Joenja for APDS Treatment

Pharming Group N.V., a prominent biopharmaceutical company based in Leiden, Netherlands, has announced that the National Institute for Health and Care Excellence (NICE) has officially recommended Joenja® (leniolisib) for reimbursement. This endorsement allows its use within the National Health Service (NHS) in England and Wales for the treatment of activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS) in both adults and children aged 12 and above.

Joenja® is recognized as the first and only medicine specifically reimbursed by the NHS for treating APDS. This rare and progressive primary immunodeficiency results from genetic variants affecting immune cell function, leading to significant health challenges such as recurrent infections and immune dysregulation. Typically, APDS can be misdiagnosed and sufferers often face a median diagnostic delay of seven years, exacerbating potential damage over time, including risks like lung damage and lymphoma.

The NICE recommendation follows a comprehensive evaluation of data, notably a Phase III clinical trial. This trial assessed leniolisib, an oral selective PI3Kδ inhibitor, and its effectiveness in patients with APDS. The results demonstrated significant improvements in immune function and reduced immune dysregulation compared to placebo. The study further showed that clinical benefits were sustained during a prolonged open-label extension trial.

Fabrice Chouraqui, the Chief Executive Officer of Pharming, hailed the NICE recommendation as a significant milestone for patients with APDS in England and Wales. He emphasized the company's dedication to collaborating with regulatory authorities, the medical community, and patient groups to deliver this pioneering treatment to those in need. Joenja® offers a targeted approach, addressing the root cause of the immune system issues seen in APDS, significantly advancing treatment options for these patients.

Professor Sinisa Savic, a Clinical Immunology expert at St James’s University Hospital, affirmed the positive impact of leniolisib. Clinical trials have shown that leniolisib provides real benefits for APDS patients, a condition that drastically affects quality of life due to immune dysregulation and recurrent infections. The NICE approval, allowing this therapy to be prescribed on the NHS, marks an important step forward in enhancing treatment options for affected individuals.

Dr. Susan Walsh, CEO of Immunodeficiency UK, expressed her appreciation for this decision. She highlighted that leniolisib's availability via the NHS is expected to immensely improve the quality of life for those with APDS and their families. The collaboration between Pharming and NICE was key in making this treatment accessible and reflects a commitment to supporting people with ultra-rare immune conditions.

The NICE recommendation aligns with the approvals from the U.K. Medicines and Healthcare products Regulatory Authority (MHRA). Leniolisib is now available in England through the Innovative Medicines Fund, providing immediate access. In Wales, funding is expected within the next three months via the NHS in specialist centers.

APDS, first characterized in 2013, is caused by mutations in the PIK3CD or PIK3R1 genes. These mutations lead to the hyperactivity of the PI3Kδ pathway, impairing immune cell maturation and function, thereby causing immunodeficiency and dysregulation. APDS affects approximately 1 to 2 individuals per million worldwide.

Joenja® is an oral small molecule inhibitor approved in the U.S., U.K., Australia, and Israel for APDS treatment. It works by inhibiting phosphatidylinositol-3-4-5-trisphosphate production, a crucial cellular messenger in various cell functions. Safety and efficacy in other primary immunodeficiencies remain under evaluation, with leniolisib also being considered for approval in additional countries, including those in the European Economic Area and Canada.