As reported in PR NewsWire; a pivotal Phase II/III trial to create a therapy for activated PI3K delta syndrome (APDS) has announced they’ve successfully completed patient enrollment for a new molecule to treat activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS). The community has hopes this could be the first available treatment option for the ultra-rare disease responsible for a range of health conditions.
Activated Phosphoinositide 3-Kinase Delta (PI3Kδ) Syndrome (APDS)
Activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS) is a rare genetic disorder that causes immunodeficiency. The genetic mutation causes issues such as autoimmunity, pneumonia bronchiectasis, enteropathy, splenomegaly, enteropathy, severe and recurrent herpes, chronic lymphadenopathy, nodular lymphoid hyperplasia, and lymphoma.
Because the disease is ultra-rare, affecting around 1 to 2 people per one million, it has only been better understood in recent years. The ultra-rare primary immunodeficiency disease is difficult to diagnose, only possible through genetic testing. Patients often first receive misdiagnoses of other autoimmune disorders or immunodeficiencies. Currently, treatment consists of supportive therapies of antibiotics or immunoglobulin replacement therapy, but no specific therapy has been made available for patients with APDS.
Hopes For The First Treatment Option
The new treatment is a small molecule that inhibits PI3Kδ that was created by Novartis, who sponsored the study, licensing the inhibitor to Pharming to carry out the trials. As the study moves into phase II/III, the drug will be first be assessed for its safety, tolerability, pharmacodynamics, and pharmacokinetics. Six patients will partake in the first part of the trial, which will be triple-blind and randomized, controlled by a placebo.
Assuming success, the trial will move on to a second phase that will include another 30 patients, who will be monitored to find the efficacy of the treatment. This trial hopes to meet the two primary endpoints: finding a change in the patient’s size of lesions from the baseline and observing a change in the baseline percentage of the naive B cells from the total B cells.
If they find success, they expect to launch the treatment in Q4, to be subject to regulatory approval by 2022.
The Chief Medical Officer of Pharming, Anurag Relan, spoke of the company’s excitement upon seeing leniolisib’s profile, as it holds the potential to offer a viable treatment to a group of patients who live without a treatment option. Now that enrollment has been finished, Novartis is another step closer to bringing this medication to patients around the globe. Relan said,
We thank patients with APDS and their families, clinical study staff and Novartis for getting leniolisib to this important point in clinical development.”
