Pathophysiology Analysis of "Costello Syndrome" on Cellular Models

University Hospital, Bordeaux9 enrolled

Overview

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.

Study Type

INTERVENTIONAL

Allocation

Purpose

BASIC_SCIENCE

Masking

NONE

Enrollment

Conditions

Costello Syndrome

Interventions

BiopsyPROCEDURE

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.

Eligibility

Sex: ALLMin age: 2 YearsMax age: 17 Years

Medical Language ↔ Plain English

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

Locations (1)

CHU de Bordeaux

Bordeaux, Aquitaine, France

Outcomes

Primary Outcomes

Measurement of HRASG12V mutation on mitochondrial energy metabolism

Time frame: 1 day

Data from ClinicalTrials.gov

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