Scientists dive into cells to unravel costello Syndrome's secrets
NCT ID NCT02812511
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study collects small skin samples from children aged 2 to 17 with Costello syndrome or a related condition. Researchers will analyze the cells to understand how a mutation in the HRAS gene affects energy use and mitochondria. The goal is to learn more about the disease's underlying biology, not to test a new treatment.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
What this could lead to
If successful, this research could uncover the biological mechanisms behind Costello syndrome, pointing toward potential targets for future treatments.
What could go wrong
This is a small, early-stage observational study with only 9 participants, so findings may not apply broadly. It aims to understand the disease, not to test a therapy.
Disclaimer
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This is a summary of
the original study
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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.
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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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
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Locations
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CHU de Bordeaux
Bordeaux, Aquitaine, 33000, France