2 and older, any sex, with PIK3CA-Related Overgrowth Spectrum (PROS). Patients with the condition only — healthy volunteers not accepted.
Results — posted to ClinicalTrials.gov
Per-arm endpoint measurements with 95% confidence intervals where reported. Source: trial results section.
Percentage of Patients Responders and Non-responders at Week 24Primary· Index date and week 24 or 6 months (± 4 weeks)
Response is defined by achieving at least 20% reduction from index date in the sum of measurable target lesion volume (1 to 3 lesions, via central review of imaging scans), provided that none of the individual target lesions have ≥ 20% increase from index date and in absence of progression of non-target lesions and without new lesions.
Responders
Group
Value
95% CI
Pediatric Patients
30.4
13.2 – 52.9
Adult Patients
55.6
21.2 – 86.3
Non Responders
Group
Value
95% CI
Pediatric Patients
69.6
47.1 – 86.8
Adult Patients
44.4
13.7 – 78.8
Percent Change in the Sum of Measurable Target Lesion VolumeSecondary· Index date, week 4, 12 , 24, 52 and end of study (up to a maximum of week 187)
Percent change in the sum of measurable target lesion (1 to 3 lesions) volume, as assessed by a central review of imaging scans, as measured by the change between the index date (or up to 24 weeks prior) and key time-points following the index date.
The index date: (baseline) was defined as the date of alpelisib initiation End of study: patients were followed up to a maximum of 187 weeks.
4 weeks
Group
Value
95% CI
Pediatric Patients
-11.64
± 12.869
Adult Patients
-11.78
± 8.154
12 weeks
Group
Value
95% CI
Pediatric Patients
-18.59
± 16.837
Adult Patients
-19.77
± 5.128
24 weeks
Group
Value
95% CI
Pediatric Patients
-11.20
± 19.987
Adult Patients
-19.69
± 15.375
52 weeks
Group
Value
95% CI
Pediatric Patients
-13.91
± 19.206
Adult Patients
-6.52
± 2.614
End of study
Group
Value
95% CI
Pediatric Patients
-36.47
± 46.137
Adult Patients
-17.38
± 11.679
Percent Change in the Sum of All Measurable Lesion VolumeSecondary· Index date, week 4, 12 , 24, 52 and end of study (up to a maximum of week 187)
Percent change in the sum of all measurable (target and non-target) lesion volume, as assessed by a central review of imaging scans, as measured by the change between the index date (or up to 24 weeks prior) and key time-points following the index date.
The index date (baseline) was defined as the date of alpelisib initiation. End of study: patients were followed up to a maximum of 187 weeks As no measurable non-target lesions were identified, the results for changes in the sum of all measurable (target and non-target) lesion volume were identical to the results presented for measurable targe
4 weeks
Group
Value
95% CI
Pediatric Patients
-11.64
± 12.869
Adult Patients
-11.78
± 8.154
12 weeks
Group
Value
95% CI
Pediatric Patients
-18.59
± 16.837
Adult Patients
-19.77
± 5.128
24 weeks
Group
Value
95% CI
Pediatric Patients
-11.20
± 19.987
Adult Patients
-19.69
± 15.375
52 weeks
Group
Value
95% CI
Pediatric Patients
-13.91
± 19.206
Adult Patients
-6.52
± 2.614
End of study
Group
Value
95% CI
Pediatric Patients
-36.47
± 46.137
Adult Patients
-17.38
± 11.679
Reasons for Discontinuation of Concomitant PROS-related Non-drug TreatmentsSecondary· Up to 187 weeks
Number of participants with concomitant PIK3CA Related Overgrowth Spectrum (PROS)-related non-drug treatments and other medical interventions by reason for discontinuation.
A patient may have multiple information, but was counted only once in type of other supportive non-drug treatment if more than one type in this category has been reported.
Recovery
Group
Value
95% CI
Pediatric Patients
12
Adult Patients
2
Completed the planned course of treatment
Group
Value
95% CI
Pediatric Patients
4
Adult Patients
7
Unknown
Group
Value
95% CI
Pediatric Patients
2
Adult Patients
1
Lack of efficacy
Group
Value
95% CI
Pediatric Patients
1
Adult Patients
1
Other
Group
Value
95% CI
Pediatric Patients
2
Adult Patients
0
Adverse event
Group
Value
95% CI
Pediatric Patients
0
Adult Patients
1
Progressive disease
Group
Value
95% CI
Pediatric Patients
0
Adult Patients
1
Subject decision
Group
Value
95% CI
Pediatric Patients
0
Adult Patients
1
Participants With Concomitant PROS-related Medications Over TimeSecondary· Index date, week 24 and end of study
Number of participants with at least one concomitant utilization of PIK3CA Related Overgrowth Spectrum (PROS)-related medication.
End of study: patients were followed up to a maximum of 187 weeks. Results are provided for the full study population as planned and documented in the protocol and SAP, and not by age group.
Index date
Group
Value
95% CI
All Patients
34
24 weeks
Group
Value
95% CI
All Patients
30
End of study
Group
Value
95% CI
All Patients
25
Number of PROS-related Completed Surgeries During the Study PeriodSecondary· Up to 187 weeks
Number of surgeries by reason of surgery. A patient may have multiple anatomical sites of surgery and types of surgery on the same day.
Number of Patients With Improvement in Most Frequent PROS-related Signs and SymptomsSecondary· Index date and week 24 or 6 months (± 4 weeks)
Improvement in PIK3CA Related Overgrowth Spectrum (PROS) signs and symptoms was defined based on Common Toxicity Criteria (CTC) grade reduction or resolution of the event from index date.
CTC is a set of criteria for the standardized classification of adverse effects of drugs used in cancer therapy. The Common Terminology Criteria for Adverse Events (CTCAE) system is a product of the US National Cancer Institute (NCI). For this study, version 4.03 was used
Fatigue improved by week 24
Group
Value
95% CI
Pediatric Patients
22
Adult Patients
10
Vascular malformation improved by week 24
Group
Value
95% CI
Pediatric Patients
20
Adult Patients
10
Disseminated intravascular coagulation improved by week 24
Group
Value
95% CI
Pediatric Patients
11
Adult Patients
5
Limb asymmetry improved by week 24
Group
Value
95% CI
Pediatric Patients
11
Adult Patients
9
Pain improved by week 24
Group
Value
95% CI
Pediatric Patients
11
Adult Patients
9
Change in Performance Status ScoreSecondary· Index date and week 24 or 6 months (± 4 weeks)
Participants with a change in performance status score (ECOG, Karnofsky, Lansky) between the index date and week 24. Patients completed one questionnaire (ECOG, Karnofsky or Lansky) based on physicians choice.
The Eastern Cooperative Oncology Group (ECOG) score runs from 0 to 5, with 0 denoting perfect health and 5 death. The Karnofsky Performance Score (KPS) and Lansky score run from 0 to 100, where 0 is death and 100 is perfect health.
For the ECOG scale, "improvement" is defined as a decrease by at least 1 point and and "worsening" is defined as an increase by at least 1 point. For the Ka
Group
Value
95% CI
Pediatric Patients
9
Adult Patients
1
Pediatric Patients
8
Adult Patients
6
Pediatric Patients
0
Adult Patients
0
Pediatric Patients
16
Adult Patients
7
Functional Status - Mobility AssessmentSecondary· Up to 187 weeks
Change in functional status: Mobility severity assessment measured up to the judgment of the investigator.
A patient may have multiple information
Group
Value
95% CI
Pediatric Patients
0
Adult Patients
1
Pediatric Patients
0
Adult Patients
1
Pediatric Patients
1
Adult Patients
2
Pediatric Patients
0
Adult Patients
1
Change From Index Date in Functional Status - School Status During the Study PeriodSecondary· Index date, week 24 and end of study (up to 187 weeks)
Change in functional status: School status during the study period (no attendance, part-time or full time).
Improvement is defined as a shift from reporting of "No attendance" to "Part-time" as well as , "Part-time" or "No attendance" to "Full-time"; Worsening is defined as a shift from reporting of "Part-time" to "No attendance", as well as from "Full-time" to "Part-time" or "No attendance".
If neither of the criteria for improvement or worsening is met, then it is considered stable.
Change 24 weeks
Group
Value
95% CI
Pediatric Patients
1
Adult Patients
0
Pediatric Patients
28
Adult Patients
4
Pediatric Patients
0
Adult Patients
0
Pediatric Patients
0
Adult Patients
0
End of study
Group
Value
95% CI
Pediatric Patients
2
Adult Patients
2
Pediatric Patients
27
Adult Patients
2
Pediatric Patients
0
Adult Patients
0
Pediatric Patients
0
Adult Patients
0
Change From Index Date in Functional Status - Work StatusSecondary· Index date, week 24 and end of study
Change in functional status: Work status assessment during the study period (no attendance, part-time, full-time or unemployed).
Improvement is defined as a shift from reporting of "No attendance" to "Part-time" or "Full time", from "Part-time" to "Full-time", as well as from "Unemployed" to "Part-time" or "Full-time" work.
Worsening is defined as a shift from reporting of "Part-time" to "No attendance", "Full-time" to "Part-time" or "No attendance" as well as "Part-time" or "Full-time" to "Unemployed" status.
Change in score is only applicable if both index date and post-index date informa
Change 24 weeks
Group
Value
95% CI
Adult Patients
0
Adult Patients
1
Adult Patients
6
Adult Patients
1
Change end of study
Group
Value
95% CI
Adult Patients
5
Adult Patients
0
Adult Patients
2
Adult Patients
1
Health Resource Utilization (HRU) - Number of Hospitalizations Per PatientSecondary· Up to 187 weeks
Hospitalizations starting on or after the start of study treatment (index date) or starting prior to and continuing after the start of study treatment are summarized.
Number of times a patient has been hospitalized
Group
Value
95% CI
Pediatric Patients
1.8
± 1.03
Adult Patients
1.7
± 0.82
Number of times a patient has been hospitalized due to PROS
Group
Value
95% CI
Pediatric Patients
1.1
± 0.35
Adult Patients
1.0
± 0.00
Adverse events — posted to ClinicalTrials.gov
Time frame: Adverse events were collected from first dose of study treatment until end of study treatment plus 30 days post treatment or cut-off date whichever occurs first, up to maximum duration of 187 weeks.
Reporting threshold: 5%.
Adverse-event reports describe events observed during the trial — not all are caused by the drug.
Pediatric Patients
Serious: 10/39 (26%)
Deaths: 0/39
Adult Patients
Serious: 11/18 (61%)
Deaths: 0/18
Serious adverse events (34 terms)
Reaction
System
Pediatric Patients
Adult Patients
Vascular malformation
Congenital, familial and genetic disorders
—
—
Gait disturbance
General disorders
—
—
Pain in extremity
Musculoskeletal and connective tissue disorders
—
—
Disseminated intravascular coagulation
Blood and lymphatic system disorders
—
—
Adrenal insufficiency
Endocrine disorders
—
—
Volvulus
Gastrointestinal disorders
—
—
Vomiting
Gastrointestinal disorders
—
—
Fatigue
General disorders
—
—
Impaired healing
General disorders
—
—
Inflammation
General disorders
—
—
Cellulitis
Infections and infestations
—
—
Influenza
Infections and infestations
—
—
Otitis media acute
Infections and infestations
—
—
Streptococcal sepsis
Infections and infestations
—
—
Urinary tract infection
Infections and infestations
—
—
Fall
Injury, poisoning and procedural complications
—
—
Multiple fractures
Injury, poisoning and procedural complications
—
—
Post procedural discomfort
Injury, poisoning and procedural complications
—
—
Pulmonary contusion
Injury, poisoning and procedural complications
—
—
Acidosis
Metabolism and nutrition disorders
—
—
Dehydration
Metabolism and nutrition disorders
—
—
Hyperglycaemia
Metabolism and nutrition disorders
—
—
Back pain
Musculoskeletal and connective tissue disorders
—
—
Haematoma muscle
Musculoskeletal and connective tissue disorders
—
—
Lipoma
Neoplasms benign, malignant and unspecified (incl cysts and polyps)
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.
Publications & conference data
8 peer-reviewed publications reference this trial (live from Europe PMC):
NCT04251533 — Study Assessing the Efficacy and Safety of Alpelisib + Nab-paclitaxel in Subjects With Advanced TNBC Who Carry Either a
· Phase 3
· terminated
NCT02077933 — Study of Safety and Efficacy of Alpelisib With Everolimus or Alpelisib With Everolimus and Exemestane in Advanced Breast
· Phase 1
· completed
NCT01923168 — Study of Letrozole With or Without BYL719 or Buparlisib, for the Neoadjuvant Treatment of Postmenopausal Women
· Phase 2
· completed
NCT04085653 — Managed Access Programs for BYL719, Alpelisib
· available
NCT03706573 — Managed Access Program to Provide Alpelisib for Patients With HR+ Advanced or Metastatic Breast Cancer
· no longer available
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Publications: Europe PMC API search by NCT ID, retrieved 10 June 2026
Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
Sponsor: as reported to ClinicalTrials.gov by Novartis Pharmaceuticals
Last refreshed: 9 February 2023
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT04285723.