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.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for CARDIO-FACIO-CUTANEOUS SYNDROME are added.
By submitting, you agree to our Terms of use
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
Locations
-
CHU de Bordeaux
Bordeaux, Aquitaine, 33000, France
More trials for these conditions
Other studies related to the condition(s) this trial covers.
- New drug aims to help kids with rare genetic short stature grow taller
- New study tests online therapy to ease stress for parents of kids with RASopathies
- Massive study aims to unlock secrets of rare genetic disorders
- Could you help scientists unlock genetic cancer secrets?
- Scientists launch major study to unravel rare genetic conditions