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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02812511
Recruitment Status : Completed
First Posted : June 24, 2016
Last Update Posted : June 24, 2016
Sponsor:
Information provided by (Responsible Party):
University Hospital, Bordeaux

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.

Condition or disease Intervention/treatment Phase
Costello Syndrome Procedure: Biopsy Not Applicable

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 9 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Basic Science
Official Title: Pathophysiology Analysis of "Costello Syndrome" on Cellular Models
Study Start Date : June 2015
Actual Primary Completion Date : July 2015
Actual Study Completion Date : July 2015

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Biopsy

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.




Primary Outcome Measures :
  1. Measurement of HRASG12V mutation on mitochondrial energy metabolism [ Time Frame: 1 day ]


Information from the National Library of Medicine

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Ages Eligible for Study:   2 Years to 17 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02812511


Locations
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France
CHU de Bordeaux
Bordeaux, Aquitaine, France, 33000
Sponsors and Collaborators
University Hospital, Bordeaux

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Responsible Party: University Hospital, Bordeaux
ClinicalTrials.gov Identifier: NCT02812511    
Other Study ID Numbers: CHUBX 2015/05
First Posted: June 24, 2016    Key Record Dates
Last Update Posted: June 24, 2016
Last Verified: June 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Additional relevant MeSH terms:
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Costello Syndrome
Syndrome
Disease
Pathologic Processes
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Musculoskeletal Diseases
Abnormalities, Multiple
Congenital Abnormalities
Genetic Diseases, Inborn