TerminatedNot Applicable

Pathophysiology Analysis of "Costello Syndrome" on Cellular Models

Stopped: Target number of inclusion not reached

France9 participantsStarted 2015-06

Plain-language summary

The objective is to collect skin biopsies rom patients with Costello syndrome to analyze the molecular mechanisms responsible for this syndrome caused by a mutation in the HRAS gene and the effects of this mutation on energy metabolism and mitochondrial physiology.

Who can participate

Age range

2 Years – 17 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1This trial was terminated before completing — do you know why it was stopped, and does that affect whether its findings about the HRAS G12V mutation and mitochondrial energy metabolism are still relevant to my child's care?
2Since this study was focused on lab-based cellular models rather than treating patients directly, what practical insights, if any, might its research into mitochondrial energy problems offer for managing Costello syndrome symptoms in a real patient?
3Are there any currently active studies building on this kind of mitochondrial metabolism research in Costello syndrome that might be worth considering instead?
4Given that this trial looked specifically at the HRAS G12V mutation, would genetic testing to confirm which HRAS mutation is present in my child's case be important before drawing any conclusions from this research?
5Since this was a pathophysiology study rather than a treatment trial, how does what researchers were learning here connect to any actual therapies or management strategies that exist or are being developed for Costello syndrome right now?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Measurement of HRASG12V mutation on mitochondrial energy metabolism

Timeframe: 1 day

Trial details

NCT IDNCT02812511

SponsorUniversity Hospital, Bordeaux

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2015-07

View on ClinicalTrials.gov More Costello Syndrome trials