Actively Recruiting
Study Assessing the Efficacy, Safety and Pharmacokinetics of Alpelisib in Pediatric and Adult Patients With PIK3CA-related Overgrowth Spectrum (PROS)
Led by Novartis Pharmaceuticals · Updated on 2026-06-02
104
Participants Needed
32
Research Sites
112 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are evaluating the effectiveness, safety, and tolerability of daily oral alpelisib in both children and adults with PIK3CA-related overgrowth spectrum (PROS), a condition characterized by abnormal tissue growth due to PIK3CA gene mutations. This Phase II study aims to provide important data on how alpelisib affects PROS symptoms and progression. The study includes a screening period of up to 42 days where eligibility is determined, including a whole body MRI to assess lesions related to PROS. The core treatment period lasts 48 weeks, with adults receiving 250 mg of alpelisib once daily, children aged 6 to under 18 years receiving 125 mg daily, and children aged 2 to under 6 years receiving 50 mg daily. Following this, participants may enter extension periods lasting up to two more years, continuing treatment under the same dosing rules. Those still benefiting at study end may access alpelisib post-trial. Participants will have regular assessments including MRI scans to measure lesion size and presence of new lesions, evaluations of pain and symptom severity, and blood tests to measure alpelisib levels. These assessments occur at multiple time points throughout the trial and extensions, up to approximately three years. The main outcome measured is the proportion of participants showing a confirmed objective response by week 48, with safety and long-term effects closely monitored.
CONDITIONS
Brief Title
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)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Male or female participants aged 2 years or older at the time of informed consent/assent
- Diagnosis of PROS with symptomatic and progressive overgrowth, including syndromic disease or isolated features (except isolated macrodactyly, macrocephaly, or epidermal nevus)
- Documented somatic mutation in the PIK3CA gene confirmed by DNA-based test
- Karnofsky or Lansky performance status index of 50 or higher
- PGI-S score of mild, moderate, severe, or very severe at screening
- Adequate bone marrow and organ function
- At least one measurable PROS-related lesion of 2 cm or larger associated with symptoms or functional limitations
You will not qualify if you...
- Participants with only isolated macrodactyly, epidermal nevus/nevi, and macroencephaly without other PROS-related lesions
- Previous treatment with alpelisib or other PI3K inhibitors, except brief attempts under 2 weeks stopped at least 4 weeks before study
- Major surgery within 3 months prior to consent
- Radiation treatment for PROS within 12 months prior to consent
- Significant PROS-related thrombotic event within 30 days before consent or recent vascular procedures within 6 weeks
- Significant bleeding from PROS lesion within 30 days before treatment start
- Clinically significant worsening of PROS-related lab abnormalities or symptoms during screening phase
- Other inclusion/exclusion criteria may apply
AI-Screening
AI-Powered Screening
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Your Study Journey
Duration - Up to 6 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person) including a whole body MRI scan
Duration - 48 weeks for the core period, followed by up to 2 years in extension periods
Participants receive alpelisib to assess its efficacy, safety, and pharmacokinetics in treating PROS. Dosing varies by age group and continues during the core and extension periods.
Multiple visits for treatment and assessments up to approximately 3 years
Trial Site Locations
Total: 32 locations
1
Washington University
St Louis, Missouri, United States, 63110
Actively Recruiting
2
Cinn Children Hosp Medical Center
Cincinnati, Ohio, United States, 45229-3039
Actively Recruiting
3
Childrens Hosp Pittsburgh UPMC
Pittsburgh, Pennsylvania, United States, 15224
Actively Recruiting
4
Baylor College Of Medicine
Houston, Texas, United States, 77030
Actively Recruiting
5
Novartis Investigative Site
Sydney, New South Wales, Australia, 2010
Actively Recruiting
6
Novartis Investigative Site
Sydney, New South Wales, Australia, 2031
Actively Recruiting
7
Novartis Investigative Site
North Adelaide, South Australia, Australia, 5066
Actively Recruiting
8
Novartis Investigative Site
Salzburg, Austria, 5020
Actively Recruiting
9
Novartis Investigative Site
Vienna, Austria, A 1090
Actively Recruiting
10
Novartis Investigative Site
Ghent, Belgium, 9000
Actively Recruiting
11
Novartis Investigative Site
Angers, France, 49933
Actively Recruiting
12
Novartis Investigative Site
Bron, France, 69677
Actively Recruiting
13
Novartis Investigative Site
Dijon, France, 21000
Actively Recruiting
14
Novartis Investigative Site
Montpellier, France, 34295
Actively Recruiting
15
Novartis Investigative Site
Paris, France, 75015
Actively Recruiting
16
Novartis Investigative Site
Toulouse, France, 31400
Actively Recruiting
17
Novartis Investigative Site
Tours, France, 37044
Actively Recruiting
18
Novartis Investigative Site
Freiburg im Breisgau, Baden-Wurttemberg, Germany, 79106
Actively Recruiting
19
Novartis Investigative Site
Düsseldorf, North Rhine-Westphalia, Germany, 40225
Actively Recruiting
20
Novartis Investigative Site
Leipzig, Saxony, Germany, 04103
Actively Recruiting
21
Novartis Investigative Site
Halle, Saxony-Anhalt, Germany, 06120
Actively Recruiting
22
Novartis Investigative Site
Berlin, Germany, 13353
Actively Recruiting
23
Novartis Investigative Site
Stuttgart, Germany, 70374
Actively Recruiting
24
Novartis Investigative Site
Roma, RM, Italy, 00168
Actively Recruiting
25
Novartis Investigative Site
Torino, TO, Italy, 10126
Actively Recruiting
26
Novartis Investigative Site
Trieste, TS, Italy, 34137
Actively Recruiting
27
Novartis Investigative Site
Esplugues, Barcelona, Spain, 08950
Actively Recruiting
28
Novartis Investigative Site
A Coruña, Spain, 15006
Actively Recruiting
29
Novartis Investigative Site
Barcelona, Spain, 08035
Actively Recruiting
30
Novartis Investigative Site
Madrid, Spain, 28046
Actively Recruiting
31
Novartis Investigative Site
Lausanne, Switzerland, 1011
Actively Recruiting
32
Novartis Investigative Site
Liverpool, United Kingdom, L12 2AP
Actively Recruiting
Research Team
N
Novartis Pharmaceuticals
N
Novartis Pharmaceuticals
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
PARALLEL
Primary Purpose
TREATMENT
Number of Arms
2
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