Pathophysiology Analysis of "Costello Syndrome" on Cellular Models (COSTELLO)

June 21, 2016 updated by: University Hospital, Bordeaux
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 Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Actual)

9

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
    • Aquitaine
      • Bordeaux, Aquitaine, France, 33000
        • CHU de Bordeaux

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

2 years to 17 years (CHILD)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: BASIC_SCIENCE
  • Allocation: NA
  • Interventional Model: SINGLE_GROUP
  • Masking: NONE

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
EXPERIMENTAL: Skin biopsy
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.

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Bordeaux

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

June 1, 2015

Primary Completion (ACTUAL)

July 1, 2015

Study Completion (ACTUAL)

July 1, 2015

Study Registration Dates

First Submitted

June 14, 2016

First Submitted That Met QC Criteria

June 21, 2016

First Posted (ESTIMATE)

June 24, 2016

Study Record Updates

Last Update Posted (ESTIMATE)

June 24, 2016

Last Update Submitted That Met QC Criteria

June 21, 2016

Last Verified

June 1, 2016

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • CHUBX 2015/05

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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