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Scientists dive into cells to unravel costello Syndrome's secrets

NCT ID NCT02812511

Knowledge-focused Sponsor: University Hospital, Bordeaux Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early This study
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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.

Study facts

What this study's own registry entry says, in plain language.

Phase

Not a phased trial

Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.

Participants

9 people

The number who actually took part.

Start date

Jun 2015

Finished

Jul 2015

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

2 to 17 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * Children aged over 2 years and under 18 * Children with a Costello Syndrome or Syndrome Cardio-Facio-Cutaneous Exclusion Criteria: * Previous history allergic to anesthetics

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Conditions

The condition(s) this trial relates to.

cardiofaciocutaneous syndrome Costello syndrome

As listed by the trial registrant

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

Costello syndrome

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.