המשך השאלה הקודמת

האם המחקר הבא יכול לעזור Background PROS is a group of rare, heterogeneous disorders resulting from activating somatic mutations in the PIK3CA gene. No medical treatment (tx) is approved for PROS. ALP, a PI3Kα inhibitor targeting the driver of PROS, showed promising results in pts (n=19) with PROS (Venot Nature 2018). Methods EPIK-P1 is a retrospective non-interventional medical chart review of pts (age ≥2 years) with PROS treated with ALP. Pts had a diagnosis of PROS, severe or life-threatening conditions, confirmed PIK3CA mutation, and received ≥1 dose of ALP (adult, 250 mg/d; paediatric, 50 mg/d) ≥24 weeks before the cutoff date (9 MAR 2020). Primary objective was to assess efficacy by the proportion of responders (pts with ≥20% reduction from tx start in the sum of target lesion volume) at week 24 by independent central review. Secondary objectives included assessing ALP safety and clinical benefit. Results Data were abstracted from 57 pts (39 paediatric, 18 adult) at 7 sites in 5 countries. Median length of exposure (start of tx to last tx per cutoff date) was 18.1 mo. In the primary endpoint analysis at week 24, 37.5% (95% CI, 21.1-56.3%) of pts (12/32 of the complete cases) responded; sensitivity analysis showed similar results. Of the 12 responders, none experienced disease progression or death by data cutoff. 23 out of 31 pts (74.2%) reported reduction in sum of target lesion volume with mean reduction of 13.7%. At week 24, proportion of pts with improvement in the most frequent (in the full-study population) PROS-related symptoms/signs was pain 90.9% (20/22), fatigue 76.2% (32/42), vascular malformation 78.9% (30/38), limb asymmetry 69.0% (20/29), and disseminated intravascular coagulation 55.2% (16/29). In the first 24 weeks, there were no surgeries due to disease progression. Adverse events (AEs) and tx-related AEs were experienced by 82.5% (n=47) and 38.6% (n=22) of pts, respectively; no deaths were reported. The most common tx-related AEs were hyperglycaemia (n=7, 12.3%), aphthous ulcer (n=6, 10.5%), and stomatitis (n=3, 5.3%). Conclusions The real-world evidence from the EPIK-P1 study demonstrates that ALP confers clinically meaningful efficacy to, and is well tolerated in, pts with PROS. Clinical trial identification