Pharming receives Orphan Drug Designation for the treatment of activated phosphoinositide 3-kinase delta syndrome (APDS)

Published : Wednesday, October 21, 2020, 6:19 pm
ACROFAN=Seunghee Shin | | SNS
 Pharming Group N.V. (Euronext Amsterdam: PHARM) today announced that the European Commission has granted orphan drug designation for leniolisib for the treatment of activated phosphoinositide 3-kinase delta syndrome (APDS), based on a positive opinion from the Committee for Orphan Medicinal Products (COMP) of the European Medicine Agency (EMA). Leniolisib was previously granted Orphan Drug Designation by the US Food and Drug Administration (FDA) in January 2018 for “the treatment of Activated PI3Kδ Syndrome (APDS) or p110δ-activating mutation causing senescent T cells, lymphadenopathy and immunodeficiency (PASLI)”.

The European Commission orphan drug designation provides certain regulatory procedural and financial incentives including, but not limited to, product market exclusivity for ten years in the EU following regulatory approval. To qualify, an investigational drug must be intended to treat a life-threatening or chronically debilitating condition that affects fewer than five in 10,000 people in the EU, and where the treatment provides a significant benefit to those affected by the condition or no satisfactory treatment is available.

Sijmen de Vries, Chief Executive Officer of Pharming, commented:
“We are pleased to have received orphan drug designation from the European Commission, an important milestone in the development of leniolisib for the treatment for APDS, an ultra-rare and debilitating disease. With no currently approved treatment, leniolisib has the potential to address a significant unmet need for patients with APDS. Leniolisib is currently being studied in a registration-enabling Phase II/III trial and remains, subject to regulatory approval, on track to launch in H2 2022.”

What is Activated Phosphoinositide 3-kinase Delta Syndrome (APDS)?

Activated phosphoinositide 3-kinase-delta (PI3Kδ) syndrome (APDS) is caused by mutations in the gene PIK3CD (Type 1 APDS) or PIK3R1 (Type 2 APDS) that activate PI3Kδ. Synonyms for Type 1 and Type 2 APDS are PASLI-CD and PASLI-R1, respectively. PASLI is the acronym for p110δ-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency.

APDS is defined as an ultra-rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent and/or severe bacterial and viral infections, chronic benign lymphoproliferation, and/or autoimmune disease. The APDS incidence rate around the world is currently estimated to be 1-2 per million. The diagnosis of APDS is made by sequencing the genes PIK3CD and/or PIK3R1 in patients with a compatible phenotype, i.e., immunodeficiency and lymphoproliferation of unknown origin.

Beginning in childhood, people with APDS develop recurrent infections, particularly in the lungs, sinuses, and ears. Over time, recurrent respiratory tract infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems. People with APDS may also have chronic active viral infections, commonly Epstein-Barr virus or cytomegalovirus infections. Sufferers also frequently develop lymphomas and other cancers.

Another possible feature of APDS is abnormal clumping of white blood cells. These clumps can lead to enlarged lymph nodes (lymphadenopathy), or the white blood cells can build up to form solid masses (nodular lymphoid hyperplasia), usually in the moist lining of the airways or intestines. While lymphadenopathy and nodular lymphoid hyperplasia are noncancerous (benign), APDS also increases the risk of developing a form of cancer called B-cell lymphoma.

Copyright © acrofan All Right Reserved

    Acrofan     |     Contact Us :     |     Contents API : RSS

Copyright © Acrofan All Right Reserved