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Clinical Trials/NCT02812511
NCT02812511TerminatedNot Applicable

Pathophysiology Analysis of "Costello Syndrome" on Cellular Models

University Hospital, Bordeaux1 site in 1 country9 target enrollmentStarted: June 1, 2015Last updated:
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Conditions
Interventions

Trial Snapshot

Phase
Not Applicable
Status
Terminated
Sponsor
Enrollment
9
Locations
1
Primary Endpoint
Measurement of HRASG12V mutation on mitochondrial energy metabolism
Study OverviewStudy DesignEligibility CriteriaArms & InterventionsOutcomesInvestigatorsSitesRecords & IdentifiersSimilar Trials

Study Overview

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.

Study Design

Study Type
Interventional
Allocation
Na
Intervention Model
Single Group
Primary Purpose
Basic Science
Masking
None

Eligibility Criteria

Ages
2 Years to 17 Years (Child)
Sex
All
Accepts Healthy Volunteers
No

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

Arms & Interventions

Skin biopsy

Experimental

Intervention: Biopsy (Procedure)

Outcomes

Primary Outcomes

Measurement of HRASG12V mutation on mitochondrial energy metabolism

Time Frame: 1 day

Secondary Outcomes

No secondary outcomes reported

Investigators

Sponsor
University Hospital, Bordeaux
Sponsor Class
Other
Responsible Party
Sponsor

Study Sites (1)

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