Pathophysiology Analysis of "Costello Syndrome" on Cellular Models

Costello Syndrome Clinical Trial

— COSTELLO  

Official title:

Pathophysiology Analysis of "Costello Syndrome" on Cellular Models

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02812511
• Other study ID #: CHUBX 2015/05
• Status: Completed
• Phase: N/A
• First received: June 14, 2016
• Last updated: June 21, 2016
• Start date: June 2015
• Est. completion date: July 2015

Study information

• Verified date: June 2016
• Source: University Hospital, Bordeaux
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Agence Nationale de Sécurité du Médicament et des produits de santé
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 9
• Est. completion date: July 2015
• Est. primary completion date: July 2015
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 2 Years to 17 Years

Eligibility

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 Design

Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Basic Science

Related Conditions & MeSH terms

• Costello Syndrome
• Syndrome

Intervention

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.

Locations

Country	Name	City	State
France	CHU de Bordeaux	Bordeaux	Aquitaine

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Bordeaux

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Measurement of HRASG12V mutation on mitochondrial energy metabolism		1 day	No