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Pathophysiology Analysis of "Costello Syndrome" on Cellular Models

NCT02812511 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 9

Last updated 2016-06-24

No results posted yet for this study

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

Interventions

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.

Sponsors & Collaborators

  • University Hospital, Bordeaux

    lead OTHER

Study Design

Allocation
NA
Purpose
BASIC_SCIENCE
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
2 Years
Max Age
17 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2015-06-30
Primary Completion
2015-07-31
Completion
2015-07-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02812511 on ClinicalTrials.gov