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PIK3CA-related overgrowth spectrum

MONDO:1040002

Any overgrowth syndrome resulting from pathogenic gain-of-function variants in the PIK3CA gene. The variants can be germline or somatic

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

19 clinical trials for this condition and its sub-types, 15 tagged with PIK3CA-related overgrowth spectrum itself.

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Where it sits in the disease tree

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Part of

↑ Overgrowth syndrome (49)

Sub-types of PIK3CA-related overgrowth spectrum

CLOVES syndrome 5 trials
Megalencephaly-capillary malformation-polymicrogyria syndrome 3 trials
Cowden syndrome 5 0 trials
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome 0 trials
3 sub-types
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia 0 trials

Including sub-types (19) Tagged with PIK3CA-related overgrowth spectrum (15)

Trials to join now! 10 Not yet recruiting 1 Not yet finished but already full! 3 Completed 4 Terminated 1

Alpelisib's Long-Term safety tracked in PIK3CA patients

Disease control Not yet recruiting

This study provides continued access to alpelisib for people who are already benefiting from it in a previous Novartis trial. It focuses on tracking long-term safety, including any side effects, in participants with PIK3CA-related overgrowth spectrum or certain breast cancers. Pa…

Phase 2 • Sponsor: Novartis Pharmaceuticals • Aim: Disease control

Last updated Sep 20, 2026 00:00 UTC