Pathophysiology Analysis of “Costello Syndrome” on Cellular Models

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.

Full Title of Study: “Pathophysiology Analysis of “Costello Syndrome” on Cellular Models”

Study Type

  • Study Type: Interventional
  • Study Design
    • Allocation: N/A
    • Intervention Model: Single Group Assignment
    • Primary Purpose: Basic Science
    • Masking: None (Open Label)
  • Study Primary Completion Date: July 2015

Interventions

  • Procedure: Biopsy
    • 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.

Arms, Groups and Cohorts

  • Experimental: Skin biopsy

Clinical Trial Outcome Measures

Primary Measures

  • Measurement of HRASG12V mutation on mitochondrial energy metabolism
    • Time Frame: 1 day

Participating in This Clinical Trial

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

Gender Eligibility: All

Minimum Age: 2 Years

Maximum Age: 17 Years

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • University Hospital, Bordeaux
  • Provider of Information About this Clinical Study
    • Sponsor

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