Joenja was approved by the MHRA in 2024 but was only issued to patients on the NHS for the first time in June.
What is APDS?
APDS (activated phosphoinositide 3-kinase delta syndrome) is a rare genetic immunodeficiency condition caused by mutations in the PI3CD or PIK3R1 genes which leads to impaired immune regulation, frequent infections, lymphoproliferation and autoimmune symptoms. The condition affects both children and adults. It is often misdiagnosed due to its rarity and the variety of symptoms it causes.
Joenja and APDS
Leniolisib (trade name Joenja) is a drug that can be used for treating APDS. It is a selective small-module inhibitor of the disease which works by blocking the aberrantly active signalling in immune cells helping to restore immune balance, improve production of anti-bodies and reduce the abnormal proliferation of immune cells (especially in the lymphoid tissue).
2023 FDA approval
The drug got FDA approval in March 2023, becoming the first APDS drug in the U.S. to be approved. The EMA (EU) and MHRA (UK) then approved the drug. The drug was approved based on Phase 2 and 3 clinical trials which demonstrated a reduction in lymph node size and improvement in immune markers.
Despite the approval by the FDA and MHRA, the drug underwent evaluation by NICE (National Institute for Health and Care Excellence) which delayed the rollout of the drug on the NHS.
Targeted therapy
Offering a targeted, disease-modifying option to patients as opposed to a general immunosuppressant makes the drug particularly attractive to patients and medical professionals alike. Its oral application and ability to address both physical symptoms and immune dysfunction make the drug a life-altering medicine.
Patients taking the drug benefit from an improvement in both life-expectancy and a decrease in physical symptoms which present themself to those with the rare genetic condition.
Reshaping treatment
Joeja reflects how molecular diagnostics and targeted drug design are reshaping treatment options in rare immunology. The development of the drug opens the door to future innovation in immune-modulating therapies, including those being developed here in the West Midlands.
