Drugs to treat rare immunodeficiency being shipped to the US for first time by Pharming

By Liza Laws

- Last updated on GMT

© Getty Images
© Getty Images

Related tags immunodeficiency immunoglobulins Pharming Group European medicines agency Pharmacology APDS Novartis

Dutch biopharmaceutical company, Pharming Group PV, has sent its first commercial shipments of a drug to treat a rare, primary immunodeficiency, to the US.

Activated PI3K Delta Syndrome (APDS) is a rare primary immunodeficiency (PI) that was first discovered in 2013.

It is caused by genetic variants in either one of two identified genes known as PIK3CD or PIK3R1, which are vital to the development and function of immune cells in the body.

Joenja (leniolisib) is an oral, selective PI3Kδ inhibitor, is the first and only treatment approved in the US for APDS in adult and pediatric patients 12 years of age and older.

Under the terms of Pharming’s 2019 exclusive license agreement with Novartis for leniolisib, the corresponding first commercial sale of Joenja triggers a $10million milestone payment by Pharming to Novartis.

Stephen Toor, chief commercial officer of Pharming said: “We are pleased to announce that the first Joenja shipments to patients, with payor reimbursement, were delivered approximately two weeks following FDA approval, achieving an important milestone for patients suffering with APDS.

“We look forward to making Joenja widely available across the US as the first and only approved treatment for patients with APDS.”

PIK3CD or PIK3R1 are vital to the development and function of immune cells in the body. Variants of these genes lead to hyperactivity of the PI3Kδ (phosphoinositide 3-kinase delta) pathway, which causes immune cells to fail to mature and function properly, leading to immunodeficiency and dysregulation.

The immunodeficiency is characterized by a number of symptoms including severe recurrent sinopulmonary infections, lymphoproliferation, autoimmunity and enteropathy. These symptoms, the company says, can be associated with a number of conditions including other primary immunodeficiencies which can lead to people being misdiagnosed have been shown to cause a median seven year diagnostic delay.

This is a progressive disease and therefore accumulative damage can occur over time, the company found, including permanent lung damage and lymphoma.

A definitive diagnosis can be made through genetic testing. APDS affects approximately one to two people per million worldwide.

Joenja inhibits the production of phosphatidylinositol-3-4-5-trisphosphate, which serves as an important cellular messenger and regulates a multitude of cell functions such as proliferation, differentiation, cytokine production, cell survival, angiogenesis, and metabolism.

Results from a randomized, placebo-controlled phase 2/3 clinical trial demonstrated clinical efficacy in the co-primary endpoints: demonstrating statistically significant impact on immune dysregulation and normalization of immunophenotype within these patients. Interim open label extension data has supported the safety and tolerability of long-term Joenja administration.

Leniolisib is currently under regulatory review by the European Medicines Agency (EMA), with plans to pursue further regulatory approvals in the UK, Canada, Australia and Japan. It is also being evaluated in a phase 3 clinical trial in children aged four to 11 with APDS, with a further trial planned in children aged one to six years with APDS.

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