AI Article Synopsis
- The study focuses on PIK3CA-related overgrowth spectrum (PROS), which includes rare conditions caused by variants in the PIK3CA gene and examines the use of alpelisib, a targeted therapy.
- A retrospective review of 57 patients treated with alpelisib showed that 37.5% had significant reduction in tumor size after six months, along with additional clinical benefits for others.
- Most patients experienced adverse effects, with a significant proportion reporting hyperglycemia and ulcers, but the treatment was deemed effective and safe without any deaths reported.
Article Abstract
Purpose: PIK3CA-related overgrowth spectrum (PROS) encompasses several rare conditions resulting from activating variants in PIK3CA. Alpelisib, a PI3Kα-selective inhibitor, targets the underlying etiology of PROS, offering a novel therapeutic approach to current management strategies. This study evaluated the safety and efficacy of alpelisib in pediatric and adult patients with PROS.
Methods: EPIK-P1 (NCT04285723) was a non-interventional, retrospective chart review of 57 patients with PROS (≥2 years) treated with alpelisib through compassionate use. Patients had severe/life-threatening PROS-related conditions and confirmed PIK3CA pathogenic variant. The primary end point assessed patient response to treatment at Week 24 (6 months).
Results: Twenty-four weeks (6 months) after treatment initiation, 12 of 32 (37.5%) patients with complete case records included in the analysis of the primary end point experienced a ≥20% reduction in target lesion(s) volume. Additional clinical benefit independent from lesion volume reduction was observed across the full study population. Adverse events (AEs) and treatment-related AEs were experienced by 82.5% (47/57) and 38.6% (22/57) of patients, respectively; the most common treatment-related AEs were hyperglycemia (12.3%) and aphthous ulcer (10.5%). No deaths occurred.
Conclusion: EPIK-P1 provides real-world evidence of alpelisib effectiveness and safety in patients with PROS and confirms PI3Kα as a valid therapeutic target for PROS symptom management.
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| http://dx.doi.org/10.1016/j.gim.2023.100969 | DOI Listing |
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