Pathophysiology Analysis of "Costello Syndrome" on Cellular Models

Status

Terminated

Phases

Unknown

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT02812511

Acronym

COSTELLO

Enrollment

Registered

2016-06-24

Start date

2015-06-01

Completion date

2015-07-01

Last updated

2026-06-08

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Costello Syndrome

Brief 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.

Interventions

PROCEDUREBiopsy

Skin biopsy is performed at the arm with a punch of 3 mm in diameter or a scalpel under local anesthesia, and then preserved in low glucose DMEM at room temperature.

Study design

Allocation

Intervention model

SINGLE_GROUP

Primary purpose

BASIC_SCIENCE

Masking

NONE

Eligibility

Sex/Gender

ALL

Age

2 Years to 17 Years

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame
Measurement of HRASG12V mutation on mitochondrial energy metabolism	1 day

Countries

France

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Jun 9, 2026