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

U

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)

9 participants in 1 patient group

Skin biopsy
Experimental group
Treatment:
Procedure: Biopsy

Trial contacts and locations

1

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Data sourced from clinicaltrials.gov

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