NICE Endorses Pharming's Joenja for Rare Immune Disorder APDS

The National Institute for Health and Care Excellence (NICE) has endorsed the use of Joenja (leniolisib), produced by Pharming, to treat individuals with the extremely rare immune disorder, activated phosphoinositide 3-kinase delta syndrome (APDS). This marks the first time a treatment specifically for APDS has been approved for use within the NHS in England. The medication is recommended for use in adults and adolescents aged 12 or older.

APDS is an inherited condition affecting the immune system, resulting in a diminished capacity to combat infections. It is estimated that about 40 to 50 individuals in the UK are affected by this disorder. The symptoms generally become apparent within the initial two years of life and include recurrent lung infections and an inability to grow and develop normally. Additionally, those with APDS have a heightened risk of developing blood cell cancers, such as lymphoma.

Helen Knight, who serves as the director of medicines evaluation at NICE, commented on this development: “This represents a pivotal advancement for individuals afflicted with this challenging genetic disorder, as they will now have routine access to this groundbreaking treatment through the NHS.” She further emphasized the significance of this decision, noting that it provides hope for an improved quality of life to some of the affected individuals and their families.

This final guidance issued by NICE is a follow-up to the approval granted by the Medicines and Healthcare products Regulatory Agency in September. The endorsement by NICE was bolstered by evidence from a 12-week placebo-controlled trial involving 31 APDS patients. By the 85th day of the trial, those who were administered Joenja experienced a reduction in the size of lymph nodes and a 37% improvement in naïve B cell counts compared to those given a placebo.

Further reinforcing NICE’s decision were the results from a long-term extension study of Joenja, which provided additional data addressing uncertainties, particularly concerning the effects of discontinuing treatment, which had been identified by NICE's independent committee.

James Palmer, NHS medical director for specialised commissioning, expressed his satisfaction regarding the recommendation, stating: “I am thrilled that the NHS in England will offer a pioneering targeted treatment for adolescents and adults facing this uncommon genetic condition that compromises the immune system, potentially leading to severe health complications and hospitalisation.”

This approval is a significant advancement in the treatment of APDS, offering new hope to patients and their families. The availability of Joenja through the NHS signifies a substantial improvement in the management of this rare condition, providing patients with a much-needed option to enhance their quality of life. As the healthcare community continues to strive for better treatments for rare conditions, such progress serves as a testament to the ongoing efforts to address the needs of those affected by such complex disorders.