Pathophysiology Analysis of "Costello Syndrome" on Cellular Models

NCT ID: NCT02812511

Last Updated: 2016-06-24

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 9 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2015-06-30
• Study Completion Date: 2015-07-31

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.

Conditions

Costello Syndrome

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: BASIC_SCIENCE
• Blinding Strategy: NONE

Study Groups

Skin biopsy

Group Type: EXPERIMENTAL

Biopsy

Intervention Type: PROCEDURE

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.

Interventions

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.

Intervention Type: PROCEDURE

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

• Minimum Eligible Age: 2 Years
• Maximum Eligible Age: 17 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

University Hospital, Bordeaux

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

CHU de Bordeaux

Bordeaux, Aquitaine, France

Countries

France

Other Identifiers

CHUBX 2015/05

Identifier Type: -

Identifier Source: org_study_id