Status:
RECRUITING
EPIK-P4: A Phase II Single-arm Study to Assess the Efficacy, Safety and Pharmacokinetics of Alpelisib (BYL719) in Pediatric and Adult Patients With PIK3CA-related Overgrowth Spectrum (PROS)
Lead Sponsor:
Novartis Pharmaceuticals
Conditions:
PIK3CA-related Overgrowth Spectrum (PROS)
Eligibility:
All Genders
2-100 years
Phase:
PHASE2
Brief Summary
This study is designed to demonstrate the efficacy and assess safety and tolerability of oral daily alpelisib in participants with PIK3CA-related overgrowth spectrum (PROS).
Detailed Description
The study consists of a screening period of up to 42 days, a core period of 48 weeks and an extension period of up to 2 years to assess the efficacy, safety and pharmacokinetic (PK) of alpelisib in pe...
Eligibility Criteria
Inclusion
- Key
- Male or female participants aged ≥2 years at the time of informed consent/assent.
- Participants with diagnosis of PROS (according to Clinical Diagnostic Criteria for PROS proposed by Keppler Noreuil et al 2014) with symptomatic AND progressive overgrowth, who have syndromic disease or isolated features (with the exception of isolated macrodactyly, macrocephaly or epidermal nevus) at the time of informed consent/assent.
- Documented evidence of a somatic mutation(s) in the PIK3CA gene performed in local laboratories using a DNA-based test AND available archival tissue (if archival tissue sample is not available, a fresh biopsy should be performed, if it is not clinically contraindicated) at the time of informed consent/assent.
- Karnofsky (in participants \>16 years of age at study entry) or Lansky (≤16 years of age at study entry) performance status index ≥50.
- PGI-S score of mild, moderate, severe, or very severe at screening.
- Adequate bone marrow and organ function.
- Presence of at least 1 PROS-related measurable lesion (longest diameter ≥2 cm) confirmed by BIRC assessment and associated with complaints, clinical symptoms or functional limitations affecting the participant's everyday life.
- Key
Exclusion
- Participant with only isolated macrodactyly, epidermal nevus/nevi and macroencephaly (the only clinical feature or a combination of any of three of them), in absence of other PROS-related lesions at the time of informed consent/assent.
- Previous treatment with alpelisib and/or any other phosphatidylinositol 3-kinase (PI3K) inhibitor(s) (except treatment attempt, defined as the attempt to treat PROS with any of PI3K inhibitors, with treatment duration less than 2 weeks and stopped at least 4 weeks prior to the first dose of study medication with alpelisib).
- Debulking or other major surgery performed within 3 months at the time of informed consent/assent.
- Radiation exposure for PROS treatment purpose within 12 months prior to informed consent/assent.
- Clinically meaningful PROS-related thrombotic event (Grade 2 and more as per CTCAE v4.03) within 30 days before informed consent/assent, and/or sclerotherapy/embolization for vascular complications performed within 6 weeks before informed consent/assent.
- Clinically meaningful bleeding from PROS-related lesion (Grade 2 and more as per CTCAE v4.03) within 30 days before study treatment initiation.
- Participants with clinically significant worsening of PROS-related laboratory abnormalities, physical signs and symptoms (such as, but not limited to increase of D-dimers, worsening of underlying pain, newly occurring swelling or redness) indicating an uncontrolled condition during the screening phase.
- Other inclusion/exclusion criteria may apply
Key Trial Info
Start Date :
October 9 2025
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
September 30 2030
Estimated Enrollment :
104 Patients enrolled
Trial Details
Trial ID
NCT06997588
Start Date
October 9 2025
End Date
September 30 2030
Last Update
January 7 2026
Active Locations (16)
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1
Novartis Investigative Site
Sydney, New South Wales, Australia, 2010
2
Novartis Investigative Site
Sydney, New South Wales, Australia, 2031
3
Novartis Investigative Site
North Adelaide, South Australia, Australia, 5066
4
Novartis Investigative Site
Salzburg, Austria, 5020