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French registry sheds light on rare overgrowth syndromes

NCT ID NCT05563831

First seen Mar 02, 2026 · Last updated Jun 23, 2026 · Updated 21 times

Summary

This completed study created a national registry in France 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 affected. The goal was to improve knowledge, not to test a treatment.

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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.

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Contacts and locations

Locations

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

    Paris, 75015, France

Conditions

The condition(s) this trial relates to.

angioosteohypertrophic syndrome CLOVES syndrome hereditary sensory and autonomic neuropathy Lymphatic Abnormalities lymphatic malformation megalencephaly megalencephaly-capillary malformation-polymicrogyria syndrome megalodactyly PIK3CA-related overgrowth spectrum vascular malformation venous hemangioma

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.