Retrospective Chart Review Study of Patients With PIK3CA-Related Overgrowth Spectrum Who Have Received Alpelisib

Retrospective Chart Review Study of Patients With PIK3CA-Related Overgrowth Spectrum (PROS) Who Have Received Alpelisib as Part of a Compassionate Use Program (EPIK-P1)

The study was a site-based retrospective non-interventional medical chart review of pediatric and adult male and female patients with PIK3CA-Related Overgrowth Spectrum (PROS) who initiated alpelisib at least 24 weeks before the cut-off date at a MAP site. The study cut-off date was 09-Mar-2020.

Patient-level data were abstracted from medical charts of all eligible patients at all participating sites. Study completion date refers to the last date data was extracted.

Information from patients treated with alpelisib was used to describe the efficacy and safety of alpelisib in PROS patients.

The index date (baseline) is defined as the date of alpelisib initiation. The study period is the period from the index date up to the most recent data available at the time of the cut-off date.

The maximum follow-up was 187 weeks.

Inclusion Criteria:

• Patient (adult or pediatric) is ≥ 2 years of age
• Patient has a physician confirmed/documented diagnosis of PROS
• Patient has a documented evidence of a mutation in the PIK3CA gene
• Patient's condition was assessed by the treating physician as severe or life threatening and treatment was deemed necessary
• Patient has been treated with at least one dose of alpelisib, initiated on or before 23-Sep-2019 (i.e. at least 24 weeks before the cut-off date of the 09-Mar-2020)
• Patient has medical chart history available during enrollment in the Novartis MAP
• Patient (or parent/guardian in case of pediatric patient) consented to participate in the study (as required by local ethics regulations) Inclusion criteria for MAP enrollment (assessed at the time of alpelisib initiation)