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Disease

PIK3CA-related overgrowth spectrum

Active therapeutic pipeline

Also known as overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes.

8
Clinical trials
1
Associated genes
1
Related proteins

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Executive briefingUpdating summary…Momentum: Moderate
Key developments
  • 1 regulatory approval from EMA on record.
  • 4 clinical trials expected to report results, the earliest in Q1 2027.
Upcoming Milestones
Major developments
Important regulatory approvalHigh impact
Approval — Alpelisib
Treatment of adult and paediatric patients aged 2 years and older with severe or life-threatening manifestations of PIK3CA-related overgrowth spectrum (PROS)2026-07-15
Major trial resultsHigh impact
EPIK-P2: A Phase II Double-blind Study With an Upfront, 16-week Randomized, Placebo-controlled Period, to Assess the Efficacy, Safety and Pharmacokinetics of Alpelisib (BYL719) in Pediatric and Adult Patients With PIK3CA-related Overgrowth Spectrum (PROS)
Results posted2026-04-30
Upcoming trial readoutHigh impact
Study Assessing the Efficacy, Safety and Pharmacokinetics of Alpelisib in Pediatric and Adult Patients With PIK3CA-related Overgrowth Spectrum (PROS)
Results expected Q3 20282026-07-08
Clinical Milestones5View
Results posted 1
Results expected 4
Regulatory Updates1View
  • 2026-07-15Approval — AlpelisibTreatment of adult and paediatric patients aged 2 years and older with severe or life-threatening manifestations of PIK3CA-related overgrowth spectrum (PROS)
Activity timeline6

Therapeutic landscape

Therapies with a regulatory footing for this condition, alongside the wider set of agents co-studied with it in the literature.

Approved & established therapies
Alpelisibapproved

Approval — Treatment of adult and paediatric patients aged 2 years and older with severe or life-thr… (2026)

Clinical trials

7 sponsors · 1 new · 0 completed in the last 12 months (net +1)

The current development programme across all trial phases.

Clinical programme
8
All trials
6
Active
0
Late-stage
1
Completed
Recruiting

A Phase 2 Study of Mutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA Mutation

Phase 2 · Recruiting · Relay Therapeutics, Inc.

Study Assessing the Efficacy, Safety and Pharmacokinetics of Alpelisib in Pediatric and Adult Patients With PIK3CA-related Overgrowth Spectrum (PROS)

Phase 2 · Recruiting · Novartis Pharmaceuticals

A Phase I/II, Multicenter Study to Evaluate the Safety, Tolerability, Pharmacokinetic Characteristics, and Efficacy of CYH33 (a Selective PI3Kα Inhibitor) in Patients With PIK3CA-related Overgrowth Spectrum (PROS) and PIK3CA-related Vascular Malformations (PRVM)

Phase 1/2 · Recruiting · Haihe Biopharma Co., Ltd.

A Modular Open Label, Signal Seeking, Phase II Trial of Targeted Therapies for Patients With Slow-Flow or Fast-Flow Vascular Malformations (TARGET-VM)

Phase 2 · Recruiting · Murdoch Childrens Research Institute
Recently completed

Nonrandomized Open Label Pilot Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation

Phase 2 · Completed · National Human Genome Research Institute (NHGRI)

Regulatory timeline

Drug regulatory events matched to this condition by indication — EMA.

First approvals
2026emaApproval — Alpelisib· Treatment of adult and paediatric patients aged 2 years and older with severe or life-threatening manifestations of PIK3CA-related overgrowth spectrum (PROS) source ↗
Other regulatory activity
2026emaCHMP positive opinion — Alpelisib· Treatment of adult and paediatric patients aged 2 years and older with severe or life-threatening manifestations of PIK3CA-related overgrowth spectrum (PROS) source ↗

European Medicines Agency (CC BY 4.0). Events are matched to this condition by drug indication text — approvals/updates for drugs indicated for it, not disease-specific acts.

Associated genes

1 match

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

PIK3CA0.77

Disease biology

1 match

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoformvia PIK3CA0.77

Reference

Authoritative identity, definition & identifiers.

Synonyms

overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.