Disease · EFO_0009146
pik3ca related overgrowth spectrum
6 sourcesdiseases-2026-09-18-0.1.0
Cite this record
ConductScience Library. pik3ca related overgrowth spectrum. Diseases, record EFO_0009146. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/EFO_0009146
On this page
Disease
Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.
- Name
- pik3ca related overgrowth spectrum
- Open Targets ID
- EFO_0009146
- Other names
- PROS
- Highest stage of its drugs
- Phase 2, for 3 of its 5 drugs, from ClinicalTrials.gov
Source Open Targets
Drugs5
The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.
| Drug | ChEMBL ID | Type | Open Targets' stage | Stage reported by | Reports | Of them trials | Trials shown here | Source |
|---|---|---|---|---|---|---|---|---|
| ALPELISIB | CHEMBL2396661 | Small molecule | Phase 2 | ClinicalTrials.gov | 4 | 4 | 4 | Drugs and targets |
| RLY-2608 | CHEMBL6068523 | Small molecule | Phase 2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| SIROLIMUS | CHEMBL413 | Small molecule | Phase 2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| MIRANSERTIB | CHEMBL4297188 | Small molecule | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| RISOVALISIB | CHEMBL4800252 | Small molecule | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
Targets5
The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.
| Target | Protein | Its drugs that act on it | Mechanisms | Highest stage of those drugs | Gene in Genes | Source |
|---|---|---|---|---|---|---|
| AKT1 | Serine/threonine-protein kinase AKT | 1 | Serine/threonine-protein kinase AKT inhibitor | Phase 1/2 | https://conductscience.org/library/genes/207 | Drugs and targets |
| AKT2 | Serine/threonine-protein kinase AKT | 1 | Serine/threonine-protein kinase AKT inhibitor | Phase 1/2 | https://conductscience.org/library/genes/208 | Drugs and targets |
| AKT3 | Serine/threonine-protein kinase AKT | 1 | Serine/threonine-protein kinase AKT inhibitor | Phase 1/2 | https://conductscience.org/library/genes/10000 | Drugs and targets |
| FKBP1A | Peptidyl-prolyl cis-trans isomerase FKBP1A | 1 | FK506-binding protein 1A inhibitor | Phase 2 | https://conductscience.org/library/genes/2280 | Drugs and targets |
| PIK3CA | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform | 1 | PI3-kinase p110-alpha subunit inhibitor | Phase 2 | https://conductscience.org/library/genes/5290 | Drugs and targets |
Trials8
Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs.
| Trial | Title | Phase | Participants | Results first posted | Conditions | Drugs | Linked by | Source |
|---|---|---|---|---|---|---|---|---|
| NCT04589650 | Study Assessing the Efficacy, Safety and PK of Alpelisib (BYL719) in Pediatric and Adult Patients With PIK3CA-related Overgrowth Spectrum | Phase 2 | 236 | 2025-02-10 | PIK3CA-related Overgrowth Spectrum (PROS) | ALPELISIB | Its record names the disease | ClinicalTrials.gov |
| NCT03094832 | Study of Miransertib (MK-7075) in Participants With PIK3CA-related Overgrowth Spectrum and Proteus Syndrome (MOSAIC) (MK-7075-002) | Phase 1/2 | 50 | 2023-03-31 | PIK3CA-Related Overgrowth Spectrum (PROS)/Proteus Syndrome | MIRANSERTIB | Its record names the disease | ClinicalTrials.gov |
| NCT02428296 | Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation | Phase 2 | 39 | 2020-01-27 | PIK3CA-Related Overgrowth Spectrum (PROS), Growth Disorder, Genetics | SIROLIMUS | Its record names the disease | ClinicalTrials.gov |
| NCT06789913 | 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 (The ReInspire Study) | Phase 2 | 277 | PIK3CA-Related Overgrowth Spectrum (PROS), Lymphatic Malformations, Vascular Malformations, PIK3CA Mutation, CLOVES Syndrome, Klippel Trenaunay Syndrome, Megalencephaly-capillary Malformation Polymicrogyria Syndrome (MCAP), Vascular Anomalies | RLY-2608 | Its record names the disease | ClinicalTrials.gov | |
| NCT06975618 | Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Preliminary Efficacy of CYH33 in Patients With PIK3CA-related Overgrowth Spectrum (PROS) and PIK3CA-related Vascular Malformations (PRVM) | Phase 1/2 | 141 | PIK3CA-Related Overgrowth Spectrum (PROS), PIK3CA-related Vascular Malformations (PRVM) | RISOVALISIB | Its record names the disease | ClinicalTrials.gov | |
| NCT06997588 | 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) | Phase 2 | 140 | PIK3CA-related Overgrowth Spectrum (PROS) | ALPELISIB | Its record names the disease | ClinicalTrials.gov | |
| NCT04980833 | Study Assessing Long-term Safety and Efficacy of Alpelisib in Patients With PIK3CA-Related Overgrowth Spectrum (PROS) Who Previously Participated in Study CBYL719F12002 (EPIK-P1) | Phase 2 | 41 | PIK3CA-related Overgrowth Spectrum (PROS) | ALPELISIB | Its record names the disease | ClinicalTrials.gov | |
| NCT04085653 | Managed Access Programs for BYL719, Alpelisib | PIK3CA-Related Overgrowth Spectrum (PROS), Breast Cancer | ALPELISIB | Its record names the disease | ClinicalTrials.gov |
Comparisons in its trials0
Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.
None in this release.
Papers from its trials6
The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.
Data dates
The date of each source this release read.
Sources 6
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ChEMBL, through Open TargetsCC BY-SA 3.0
- ClinicalTrials.govNo license stated
- NLM's MeSHNLM's terms
- Open TargetsCC0 1.0
- PubMedNLM's terms
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- ClinicalTrials.govnone stated
- NLM's MeSHNLM's
- Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- PubMedNLM's terms
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
For software
Read this disease from software.
The record and each of its lists are JSON, twenty rows a page. No key.
GET https://conductscience.org/api/diseases/v1/EFO_0009146
GET https://conductscience.org/api/diseases/v1/EFO_0009146/drugs