French registry aims to uncover the hidden prevalence of rare overgrowth diseases

NCT ID NCT05563831

First seen Mar 02, 2026 · Last updated May 22, 2026 · Updated 16 times

Summary

This study created the first French national registry for people with rare overgrowth syndromes caused by PIK3CA gene mutations. Researchers collected clinical and genetic information from 28 children and adults to better understand these conditions and estimate how many people are affected. The goal was to improve knowledge, not to test a treatment.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for VASCULAR MALFORMATIONS are added.

Our safety recommendation!

By submitting, you agree to our Terms of use

Contacts and locations

Locations

  • Translational medicine and Targeted therapies unit, Hôpital Necker Enfants Malades

    Paris, 75015, France

Conditions

Explore the condition pages connected to this study.