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

Primary Purpose

Costello Syndrome

Status
Completed
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Biopsy
Sponsored by
University Hospital, Bordeaux
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional basic science trial for Costello Syndrome

Eligibility Criteria

2 Years - 17 Years (Child)All SexesDoes not accept 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

Sites / Locations

  • CHU de Bordeaux

Arms of the Study

Arm 1

Arm Type

Experimental

Arm Label

Skin biopsy

Arm Description

Outcomes

Primary Outcome Measures

Measurement of HRASG12V mutation on mitochondrial energy metabolism

Secondary Outcome Measures

Full Information

First Posted
June 14, 2016
Last Updated
June 21, 2016
Sponsor
University Hospital, Bordeaux
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1. Study Identification

Unique Protocol Identification Number
NCT02812511
Brief Title
Pathophysiology Analysis of "Costello Syndrome" on Cellular Models
Acronym
COSTELLO
Official Title
Pathophysiology Analysis of "Costello Syndrome" on Cellular Models
Study Type
Interventional

2. Study Status

Record Verification Date
June 2016
Overall Recruitment Status
Completed
Study Start Date
June 2015 (undefined)
Primary Completion Date
July 2015 (Actual)
Study Completion Date
July 2015 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
University Hospital, Bordeaux

4. Oversight

Data Monitoring Committee
No

5. Study Description

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Costello Syndrome

7. Study Design

Primary Purpose
Basic Science
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
9 (Actual)

8. Arms, Groups, and Interventions

Arm Title
Skin biopsy
Arm Type
Experimental
Intervention Type
Procedure
Intervention Name(s)
Biopsy
Intervention Description
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.
Primary Outcome Measure Information:
Title
Measurement of HRASG12V mutation on mitochondrial energy metabolism
Time Frame
1 day

10. Eligibility

Sex
All
Minimum Age & Unit of Time
2 Years
Maximum Age & Unit of Time
17 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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
Facility Information:
Facility Name
CHU de Bordeaux
City
Bordeaux
State/Province
Aquitaine
ZIP/Postal Code
33000
Country
France

12. IPD Sharing Statement

Plan to Share IPD
No

Learn more about this trial

Pathophysiology Analysis of "Costello Syndrome" on Cellular Models

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