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TERMINATED
NCT02812511
NA
Pathophysiology Analysis of "Costello Syndrome" on Cellular Models
Sponsor: University Hospital, Bordeaux
View on ClinicalTrials.gov
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.
Key Details
Gender
All
Age Range
2 Years - 17 Years
Study Type
INTERVENTIONAL
Enrollment
9
Start Date
2015-06
Completion Date
2015-07
Last Updated
2026-06-08
Healthy Volunteers
No
Conditions
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.
Locations (1)
CHU de Bordeaux
Bordeaux, Aquitaine, France