PIK3CA-related overgrowth spectrum

Summary

PIK3CA-related overgrowth spectrum (MONDO:1040002) is a disease (an umbrella term covering 5 Mondo subtypes) with 1 cohort gene and 14 clinical trials. Top therapeutic interventions include alpelisib, sirolimus, and miransertib.

At a glance

• Umbrella term: 5 Mondo subtypes
• Cohort genes: 1
• ClinVar variants: 60
• Clinical trials: 14

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	PIK3CA-related overgrowth spectrum
Mondo ID	MONDO:1040002
UMLS	C4728213
MedGen	1790024
GARD	0027113
Is cancer (heuristic)	no

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

Data availability: 60 ClinVar variants.

Disease family

An umbrella term covering 5 Mondo subtypes.

Classification path: disease › human disease › disease by developmental or physiological process › disorder of development or morphogenesis › overgrowth syndrome › PIK3CA-related overgrowth spectrum

Related subtypes (30): Beckwith-Wiedemann syndrome, hemifacial hypertrophy, angioosteohypertrophic syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, isolated hemihyperplasia, hypoinsulinemic hypoglycemia and body hemihypertrophy, Perlman syndrome, Weaver syndrome, Simpson-Golabi-Behmel syndrome, tetrasomy 12p, Marshall-Smith syndrome, hemifacial myohyperplasia, CLAPO syndrome, Maffucci syndrome, Malan overgrowth syndrome, segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome, trisomy 5p, hemihyperplasia-multiple lipomatosis syndrome, 11p15.4 microduplication syndrome, 15q overgrowth syndrome, global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome, megalencephaly-severe kyphoscoliosis-overgrowth syndrome, congenital isolated hyperinsulinism, 4p16.3 microduplication syndrome, overgrowth syndrome with 2q37 translocation, MTOR-related overgrowth spectrum, AKT3-related overgrowth spectrum, PRC-2 complex-related overgrowth spectrum, PIK3R2-related overgrowth spectrum

Subtypes (5): megalencephaly-capillary malformation-polymicrogyria syndrome, CLOVES syndrome, Cowden syndrome 5, segmental progressive overgrowth syndrome with fibroadipose hyperplasia, megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

60 retrieved; paginated sample, class counts are floors:

27 pathogenic, 14 likely pathogenic, 13 pathogenic/likely pathogenic, 4 conflicting classifications of pathogenicity, 2 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
1172582	NM_006218.4(PIK3CA):c.344G>C (p.Arg115Pro)	PIK3CA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1172583	NM_006218.4(PIK3CA):c.3104C>T (p.Ala1035Val)	PIK3CA	Pathogenic	criteria provided, single submitter
1198826	NM_006218.4(PIK3CA):c.277C>T (p.Arg93Trp)	PIK3CA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1209066	NM_006218.4(PIK3CA):c.3012G>A (p.Met1004Ile)	PIK3CA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
13652	NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	PIK3CA	Pathogenic	reviewed by expert panel
13653	NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)	PIK3CA	Pathogenic	criteria provided, multiple submitters, no conflicts
13655	NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)	PIK3CA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
13656	NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly)	PIK3CA	Pathogenic	criteria provided, single submitter
13657	NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys)	PIK3CA	Pathogenic	criteria provided, multiple submitters, no conflicts
13659	NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala)	PIK3CA	Pathogenic	criteria provided, multiple submitters, no conflicts
156446	NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp)	PIK3CA	Pathogenic	criteria provided, multiple submitters, no conflicts
1691391	NM_006218.4(PIK3CA):c.3061T>C (p.Tyr1021His)	PIK3CA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
179173	NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)	PIK3CA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1804026	NM_006218.4(PIK3CA):c.1346C>T (p.Pro449Leu)	PIK3CA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
217291	NM_006218.4(PIK3CA):c.311C>T (p.Pro104Leu)	PIK3CA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
217292	NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile)	PIK3CA	Pathogenic	criteria provided, multiple submitters, no conflicts
217293	NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)	PIK3CA	Pathogenic	criteria provided, multiple submitters, no conflicts
2571196	NM_006218.4(PIK3CA):c.1340_1366del (p.Pro447_Leu455del)	PIK3CA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2672088	NM_006218.4(PIK3CA):c.1632_1633delinsAA (p.Glu545Lys)	PIK3CA	Pathogenic	criteria provided, single submitter
31944	NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)	PIK3CA	Pathogenic	reviewed by expert panel
31945	NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)	PIK3CA	Pathogenic	criteria provided, multiple submitters, no conflicts
375898	NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro)	PIK3CA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
376049	NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln)	PIK3CA	Pathogenic	criteria provided, multiple submitters, no conflicts
376050	NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)	PIK3CA	Pathogenic	criteria provided, multiple submitters, no conflicts
376470	NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)	PIK3CA	Pathogenic	criteria provided, multiple submitters, no conflicts
376476	NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys)	PIK3CA	Pathogenic	reviewed by expert panel
376478	NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)	PIK3CA	Pathogenic	criteria provided, multiple submitters, no conflicts
376498	NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)	PIK3CA	Pathogenic	criteria provided, multiple submitters, no conflicts
39703	NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)	PIK3CA	Pathogenic	reviewed by expert panel
39704	NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr)	PIK3CA	Pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 15 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
PIK3CA	Orphanet:140944	CLOVES syndrome
PIK3CA	Orphanet:144	Lynch syndrome
PIK3CA	Orphanet:168984	CLAPO syndrome
PIK3CA	Orphanet:201	Cowden syndrome
PIK3CA	Orphanet:210159	Adult hepatocellular carcinoma
PIK3CA	Orphanet:221061	Familial cerebral cavernous malformation
PIK3CA	Orphanet:2495	Meningioma
PIK3CA	Orphanet:276280	Hemihyperplasia-multiple lipomatosis syndrome
PIK3CA	Orphanet:295239	Macrodactyly of fingers, unilateral
PIK3CA	Orphanet:295243	Macrodactyly of toes, unilateral
PIK3CA	Orphanet:314662	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
PIK3CA	Orphanet:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome
PIK3CA	Orphanet:714737	Diffuse capillary malformation with overgrowth
PIK3CA	Orphanet:90308	Capillary-lymphatic-venous malformation with segmental distribution
PIK3CA	Orphanet:99802	Hemimegalencephaly

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
PIK3CA	HGNC:8975	ENSG00000121879	P42336	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	clinvar,civic_evidence

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
PIK3CA	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Kinase	1	27.7×	0.036

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
PIK3CA	Kinase	yes	2.7.1.137	PI3K_Ras-bd_dom, PI3/4_kinase_cat_dom, PI3K_accessory_dom

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
adrenal tissue	1
calcaneal tendon	1
tendon	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
PIK3CA	284	ubiquitous	marker	calcaneal tendon, adrenal tissue, tendon

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
PIK3CA	5,157

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
PIK3CA	P42336	135

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 60. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
MET activates PI3K/AKT signaling	1	1903.3×	0.004	PIK3CA
Activated NTRK3 signals through PI3K	1	1903.3×	0.004	PIK3CA
Activated NTRK2 signals through PI3K	1	1631.4×	0.004	PIK3CA
Signaling by LTK in cancer	1	1631.4×	0.004	PIK3CA
PI3K/AKT activation	1	1268.9×	0.004	PIK3CA
IRS-mediated signalling	1	1038.2×	0.004	PIK3CA
PI3K events in ERBB4 signaling	1	1038.2×	0.004	PIK3CA
Co-stimulation by ICOS	1	1038.2×	0.004	PIK3CA
Signaling by FGFR4 in disease	1	951.7×	0.004	PIK3CA
Erythropoietin activates Phosphoinositide-3-kinase (PI3K)	1	951.7×	0.004	PIK3CA
Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants	1	878.5×	0.004	PIK3CA
Signaling by PDGFRA extracellular domain mutants	1	878.5×	0.004	PIK3CA
Signaling by LTK	1	878.5×	0.004	PIK3CA
Signaling by FLT3 ITD and TKD mutants	1	761.3×	0.004	PIK3CA
Constitutive Signaling by EGFRvIII	1	713.8×	0.004	PIK3CA
PI3K events in ERBB2 signaling	1	671.8×	0.004	PIK3CA
Signaling by ERBB2 ECD mutants	1	671.8×	0.004	PIK3CA
GAB1 signalosome	1	634.4×	0.004	PIK3CA
Signaling by cytosolic FGFR1 fusion mutants	1	634.4×	0.004	PIK3CA
PI-3K cascade:FGFR3	1	634.4×	0.004	PIK3CA
Tie2 Signaling	1	601.0×	0.004	PIK3CA
Role of LAT2/NTAL/LAB on calcium mobilization	1	601.0×	0.004	PIK3CA
Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants	1	571.0×	0.004	PIK3CA
Signaling by ALK	1	571.0×	0.004	PIK3CA
PI-3K cascade:FGFR4	1	571.0×	0.004	PIK3CA
Signaling by FLT3 fusion proteins	1	571.0×	0.004	PIK3CA
PI-3K cascade:FGFR1	1	519.1×	0.004	PIK3CA
Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants	1	519.1×	0.004	PIK3CA
PI-3K cascade:FGFR2	1	496.5×	0.004	PIK3CA
Signaling by FGFR3 in disease	1	496.5×	0.004	PIK3CA

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
response to muscle inactivity	1	16852.0×	0.001	PIK3CA
response to butyrate	1	16852.0×	0.001	PIK3CA
response to L-leucine	1	5617.3×	0.002	PIK3CA
cellular response to hydrostatic pressure	1	5617.3×	0.002	PIK3CA
negative regulation of actin filament depolymerization	1	2808.7×	0.002	PIK3CA
regulation of cellular respiration	1	2808.7×	0.002	PIK3CA
regulation of actin filament organization	1	2407.4×	0.002	PIK3CA
autosome genomic imprinting	1	2407.4×	0.002	PIK3CA
negative regulation of fibroblast apoptotic process	1	2407.4×	0.002	PIK3CA
cardiac muscle cell contraction	1	1685.2×	0.002	PIK3CA
positive regulation of protein localization to membrane	1	1685.2×	0.002	PIK3CA
TORC2 signaling	1	1532.0×	0.002	PIK3CA
phosphatidylinositol-3-phosphate biosynthetic process	1	1296.3×	0.002	PIK3CA
anoikis	1	1296.3×	0.002	PIK3CA
relaxation of cardiac muscle	1	1296.3×	0.002	PIK3CA
response to dexamethasone	1	1203.7×	0.002	PIK3CA
vasculature development	1	1123.5×	0.002	PIK3CA
negative regulation of macroautophagy	1	1123.5×	0.002	PIK3CA
vascular endothelial growth factor signaling pathway	1	1053.2×	0.002	PIK3CA
negative regulation of anoikis	1	887.0×	0.003	PIK3CA
response to muscle stretch	1	766.0×	0.003	PIK3CA
phosphatidylinositol-mediated signaling	1	702.2×	0.003	PIK3CA
regulation of multicellular organism growth	1	648.1×	0.003	PIK3CA
positive regulation of lamellipodium assembly	1	601.9×	0.003	PIK3CA
positive regulation of TOR signaling	1	495.6×	0.004	PIK3CA
insulin-like growth factor receptor signaling pathway	1	495.6×	0.004	PIK3CA
phosphatidylinositol phosphate biosynthetic process	1	481.5×	0.004	PIK3CA
endothelial cell migration	1	411.0×	0.004	PIK3CA
cardiac muscle contraction	1	401.2×	0.004	PIK3CA
adipose tissue development	1	401.2×	0.004	PIK3CA

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 0

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
PIK3CA	IDELALISIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
PIK3CA	67	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
IDELALISIB	4	PIK3CA
ALPELISIB	4	PIK3CA
DUVELISIB	4	PIK3CA
COPANLISIB	4	PIK3CA
FEDRATINIB	4	PIK3CA
ROMIDEPSIN	4	PIK3CA
COPANLISIB HYDROCHLORIDE	4	PIK3CA
LENIOLISIB	4	PIK3CA
BELINOSTAT	4	PIK3CA
INAVOLISIB	4	PIK3CA
SUNITINIB	4	PIK3CA
DASATINIB	4	PIK3CA
CRIZOTINIB	4	PIK3CA
MIDOSTAURIN	4	PIK3CA
DACTOLISIB	3	PIK3CA
BUPARLISIB	3	PIK3CA
RESVERATROL	3	PIK3CA
IPATASERTIB	3	PIK3CA
TASELISIB	3	PIK3CA
EPIGALOCATECHIN GALLATE	3	PIK3CA
GEDATOLISIB	3	PIK3CA
LESTAURTINIB	3	PIK3CA
OMIPALISIB	2	PIK3CA
VISTUSERTIB	2	PIK3CA
FIMEPINOSTAT	2	PIK3CA
EGANELISIB	2	PIK3CA
BERZOSERTIB	2	PIK3CA
BIMIRALISIB	2	PIK3CA
PICTILISIB	2	PIK3CA
ZSTK-474	2	PIK3CA

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
PIK3CA	2,034	Binding:2009, ADMET:19, Toxicity:4, Functional:2

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
PIK3CA	2.7.1.137, 2.7.1.153, 2.7.11.1	phosphatidylinositol 3-kinase, phosphatidylinositol-4,5-bisphosphate 3-kinase, non-specific serine/threonine protein kinase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
PIK3CA	2,034

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

29 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
IDELALISIB	4	PIK3CA
DUVELISIB	4	PIK3CA
COPANLISIB	4	PIK3CA
FEDRATINIB	4	PIK3CA
ROMIDEPSIN	4	PIK3CA
COPANLISIB HYDROCHLORIDE	4	PIK3CA
LENIOLISIB	4	PIK3CA
BELINOSTAT	4	PIK3CA
INAVOLISIB	4	PIK3CA
SUNITINIB	4	PIK3CA
DASATINIB	4	PIK3CA
CRIZOTINIB	4	PIK3CA
MIDOSTAURIN	4	PIK3CA
DACTOLISIB	3	PIK3CA
BUPARLISIB	3	PIK3CA
RESVERATROL	3	PIK3CA
IPATASERTIB	3	PIK3CA
TASELISIB	3	PIK3CA
EPIGALOCATECHIN GALLATE	3	PIK3CA
GEDATOLISIB	3	PIK3CA
LESTAURTINIB	3	PIK3CA
OMIPALISIB	2	PIK3CA
VISTUSERTIB	2	PIK3CA
FIMEPINOSTAT	2	PIK3CA
EGANELISIB	2	PIK3CA
BERZOSERTIB	2	PIK3CA
BIMIRALISIB	2	PIK3CA
PICTILISIB	2	PIK3CA
ZSTK-474	2	PIK3CA

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	PIK3CA
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

0 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Clinical trials & evidence

Clinical trials

Clinical trials: 14.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	7
PHASE2	6
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04589650	PHASE2	ACTIVE_NOT_RECRUITING	Study Assessing the Efficacy, Safety and PK of Alpelisib (BYL719) in Pediatric and Adult Patients With PIK3CA-related Overgrowth Spectrum
NCT04980833	PHASE2	ACTIVE_NOT_RECRUITING	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)
NCT05983159	PHASE2	RECRUITING	A Trial of Targeted Therapies for Patients With Slow-Flow or Fast-Flow Vascular Malformations
NCT06789913	PHASE2	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
NCT06975618	PHASE1/PHASE2	RECRUITING	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)
NCT06997588	PHASE2	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)
NCT02428296	PHASE2	COMPLETED	Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation
NCT00001403	Not specified	RECRUITING	Study of Proteus Syndrome and Related Congenital Disorders
NCT04085653	Not specified	AVAILABLE	Managed Access Programs for BYL719, Alpelisib
NCT03317366	Not specified	NO_LONGER_AVAILABLE	Expanded Access to Provide ARQ 092 for the Treatment of Overgrowth Diseases and/or Vascular Anomalies
NCT04285723	Not specified	COMPLETED	Retrospective Chart Review Study of Patients With PIK3CA-Related Overgrowth Spectrum Who Have Received Alpelisib
NCT05294289	Not specified	COMPLETED	Health-related Quality of Life, Symptom Severity, and Pain Among Patients With PIK3CA-related Overgrowth Spectrum: A Mixed-methods Observational Study
NCT05563831	Not specified	COMPLETED	National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS)
NCT07222423	Not specified	COMPLETED	A Study of the Epidemiology and Hospital Management of Patients With PROS in France

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ALPELISIB	4	7
SIROLIMUS	4	1
MIRANSERTIB	2	1
MIRDAMETINIB	2	1
RISOVALISIB	2	1
RLY-2608	1	1