PIK3CA-related overgrowth spectrum
MONDO:1040002Any 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.
Follow this condition — get notified about new trialsSub-types
Broader categories
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Could a drug stop uncontrolled body growth? small study tests sirolimus
Disease control CompletedThis pilot study tested the drug sirolimus in 16 people aged 3 to 65 who have excessive growth in parts of their body due to a change in the PIK3CA gene. The goal was to see if sirolimus can stop or slow that overgrowth. Researchers used MRI scans and other measures to track chan…
Phase: PHASE2 • Sponsor: Centre Hospitalier Universitaire Dijon • Aim: Disease control
Last updated Jun 27, 2026 07:58 UTC
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New drug may ease severe skin rashes in cancer patients
Symptom relief CompletedThis study tested whether the drug benralizumab can safely reduce skin rashes caused by cancer treatments like checkpoint inhibitors. The goal was to lower the number of high-grade rashes to milder ones, which could improve quality of life and help patients stay on their cancer t…
Phase: PHASE2 • Sponsor: Memorial Sloan Kettering Cancer Center • Aim: Symptom relief
Last updated Jun 27, 2026 13:01 UTC
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New registry sheds light on rare overgrowth diseases
Knowledge-focused CompletedThis completed study created a French national registry for people with rare overgrowth syndromes caused by PIK3CA gene mutations. Researchers collected medical and genetic information from 28 patients to better understand these conditions and estimate how many people are affecte…
Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:07 UTC
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French hospital data reveals hidden burden of rare PROS disorders
Knowledge-focused CompletedThis study looked at hospital records from 2015 to 2022 to find out how many people in France have a group of rare genetic conditions called PROS. Researchers counted new cases each year, described patient ages and other health problems, and estimated costs. No treatments were te…
Sponsor: Novartis Pharmaceuticals • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC