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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