According to a story from pharmaphorum.com, a therapy being developed for the rare disease activated PI3K delta syndrome (APDS) is on its way to regulators for approval following promising results in a phase 2/3 clinical trial. The therapy is called leniolisib and is being developed by Netherlands-based biotechnology company Pharming, under license for Novartis. If approved, this would be the first-ever treatment developed specifically for the rare disorder.
About Activated PI3K Delta Syndrome
Activated PI3K delta syndrome is one of the less well known forms of primary immunodeficiency that has only recently been described by scientists. As in many forms of immunodeficiency, the disorder causes patients to have weakened immune systems, and their levels of white blood cells, such as B cells and T cells, are often abnormally low. The syndrome is linked to mutations affecting a gene called PIK3CD, which plays a critical role in the creation of a protein called p110 delta. This protein is in turn part of the enzyme phosphatidylinositol 3-kinase (PI3K). This enzyme is critical for the activation of important signaling pathways for T cells and B cells. Symptoms appear early in life and often include frequent infections of the sinuses, ears, and lungs. It also causes enlarged lymph nodes and abnormal clumping of white blood cells in the airway or intestines. Risk of B-cell lymphoma is increased. Treatment includes regimens of antivirals and antibiotics to control infection. To learn more about activated PI3K delta syndrome, click here.
Trial Findings
In the clinical trial of 31 patients living with the disease, the treatment was able to meet two critical endpoints: reduction in the size of the lymph nodes compared to placebo, and correction of immune deficiency. This last endpoint was measured by an increased number of naïve B-cells. If approved, leniolisib could be a useful alternative to the supportive approaches that are the current backbone of care for patients with the disorder.
Hopefully, regulatory agencies around the world will give leniolisib approval after evaluating the encouraging results from the clinical trial.
