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
About this trial
This is an interventional basic science trial for Costello Syndrome
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
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
NCT ID
NCT02812511
First Posted
June 14, 2016
Last Updated
June 21, 2016
Sponsor
University Hospital, Bordeaux
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
We'll reach out to this number within 24 hrs