Pharming Group N.V. announced it will host a webcast on June 30, 2025, to discuss findings from a new study published in Cell. The study identified over 100 new variants that may cause activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS).
These results are expected to enable clinical genetic testing labs to appropriately reclassify Variants of Uncertain Significance (VUSs), accelerating a definitive APDS diagnosis for many patients. This process is anticipated to commence in the second half of 2025.
The findings suggest that APDS may be significantly more prevalent than previously estimated, potentially up to 100 times greater. This scientific advancement could lead to the reclassification of approximately 20% of the more than 1,400 U.S. patients with VUS results, substantially expanding the addressable patient pool for Joenja.
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