FDA Approves First Treatment for Rare Immunodeficiency Disease

The FDA has approved Pharming’s Joenja (leniolisib) to treat patients 12 years of age and older with a rare primary immunodeficiency disease, activated PI3K-delta syndrome (APDS). It is a genetic disorder that impairs the immune system.

People with this condition often have low numbers of white blood cells and develop recurrent infections, particularly in the sinuses, ears, and respiratory tract. They also develop enlarged lymph nodes, tonsils, and other organs that can cause obstruction in the airway and gastrointestinal tract. Patients with APDS are more prone to develop blood cell cancers, such as lymphoma.

Joenja is an oral phosphoinositide 3-kinase delta (PI3Kδ) inhibitor. Joenja inhibits the production of PIP3, which is an important cellular messenger, and it regulates cell functions such as proliferation, differentiation, cytokine production, cell survival, angiogenesis, and metabolism.

Company officials said Joenja will be available in mid-April. The product will launch with a wholesale acquisition cost of $45,000 for a 60-tablet bottle (a 30-day supply), for an annual cost of $547,500 a year, Stephen Toor, chief commercial officer of Pharming, said in a call with investors. The company expects insurers will have a prior authorization process for Joenja.

Pharming has also established APDS Assist that provides $0 copay assistance for patients with insurance and patient assistance for eligible patients. The program will also assist with insurance and provide support and education.

The company has partnered with PantherRx Specialty Pharmacy to provide these services.

Eveline Wu, M.D.

“The FDA approval of Joenja is an exciting moment for the APDS community and offers to transform the treatment pathway for patients and families affected by this rare disease,” Eveline Wu, M.D., division chief, Pediatric Rheumatology & Associate Professor of Pediatric Rheumatology and Allergy/Immunology at The University of North Carolina School of Medicine, said in a press release. “This approval means that they will, for the first time, have access to an approved treatment, which has the potential to change the standard of care for the patient population suffering from APDS.”

The efficacy of Joenja was evaluated in the placebo-controlled portion of Study 2201, a phase 2/3 12‑week, placebo-controlled study of 31 patients with confirmed APDS. During the study, 21 patients received 70 mg of Joenja and 10 received placebo twice a day for 12 weeks. By day 85 of the study, patients taking Joenja saw a reduction in lymph node size and a 37% improvement in naïve B cells counts compared with placebo, indicating a correction of the underlying immune defect. The most common side effects were headache, sinusitis, and atopic dermatitis.

An ongoing open-label extension study is following 37 patients for long-term safety, tolerability, efficacy and pharmacokinetics. Additionally, a study of patients 4 to 11 years of age has enrolled its first patient.

Pharming in 2019 entered into a license agreement with Novartis for leniolisib.