TGA clears first therapy in rare immunodeficiency disease

The Therapeutic Goods Administration (TGA) has approved the first targeted therapy for a rare primary immunodeficiency disease affecting both adolescents and adults. Pharming Australia’s Joenja (leniolisib), an oral PI3Kδ inhibitor, is the first treatment to directly target the molecular drivers of activated phosphoinositide 3-kinase delta syndrome (APDS).

Until now, clinical management of APDS relied solely on supportive measures, including immunoglobulin replacement, immunosuppressants, prophylactic antibiotics, and, in some cases, surgical interventions. There were no therapies designed to address the underlying cause of the disease.

“This is a rare but devastating condition that affects children, adolescents and adults. Until now, we have had no way to intervene at the disease level – only to manage its complications,” said A/Professor Lucinda Berglund, staff specialist at Westmead Hospital and Clinical Associate Professor at the University of Sydney.

“The approval of Joenja changes that, giving us the ability to better treat symptoms and complications of the disease, and to alter the disease trajectory. It represents a critical shift in how we care for Australian patients living with APDS.”

Pharming acquired Joenja from Novartis in 2019 for USD$20 million. APDS can lead to irreversible lung damage and an elevated risk of blood cancers. Alarmingly, data shows that one in four individuals with APDS are at risk of death by the age of 30.

The company is now seeking reimbursement through the Pharmaceutical Benefits Scheme (PBS) Highly Specialised Drugs Program (s100) or the Life Saving Drugs Program (LSDP). A submission to the Pharmaceutical Benefits Advisory Committee (PBAC) is scheduled for evaluation in July 2025.

“The registration of Joenja marks an important first step, but access is equally critical, and we are committed to ensuring equitable access for eligible patients in Australia. In a condition as serious and progressive as APDS, every month without appropriate therapy matters,” said Michael Stewart, Managing Director, Pharming Australia and Asia Pacific Region Head.

Recognising the hereditary nature of APDS, A/Prof Berglund underscored the importance of early diagnosis.

“While APDS remains a very rare condition, immunodeficiencies as a group of disorders are more common, and health professionals should be alert for recurring patterns of immune dysfunction in both children and adults – particularly when patients present with recurrent infections, lymphoproliferation and/or autoimmune features.

“Genetic testing is the only way to confirm IEI and APDS, and family members of diagnosed patients should also be considered for specialist referral and testing. Early intervention can make a meaningful difference in long-term outcomes,” added A/Prof Berglund.

“While Pharming is a global biopharmaceutical company, we are very new to Australia – and we understand the importance of building strong, trusted partnerships with the local clinical, research and rare disease communities,” Stewart said.

“We are here with a long-term commitment to working closely and collaboratively with researchers, clinicians, diagnostic laboratories and patient advocacy groups to raise awareness of IEI such as APDS, support genetic testing and timely diagnosis, and improve the referral pathways that enable earlier intervention and better patient outcomes,” he added.

In reimagining healthcare across the entire patient journey, Health Industry Hub^TM is the only one-stop-hub uniting the diversity of the Pharma, MedTech, Diagnostics & Biotech sectors to inspire meaningful change.

The Health Industry Hub^TM content is copyright protected. Access is available under individual user licenses. Please click here to subscribe and visit T&Cs here.