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

University Hospital of Bordeaux

Status: Completed

Conditions: Costello Syndrome

Treatments: Procedure: Biopsy

Study type: Interventional

Funder types: Other

Identifiers

NCT02812511

CHUBX 2015/05

Details and patient eligibility

About

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.

Enrollment: 9 patients

Sex: All

Ages: 2 to 17 years old

Volunteers: No 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

Trial design

Primary purpose: Basic Science

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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9 participants in 1 patient group

Skin biopsy

Experimental group

Treatment:

Procedure: Biopsy