Pathophysiology Analysis of "Costello Syndrome" on Cellul... | NCT02812511

Studies
Pathophysiology Analysis of "Costello Syndrome" on Cellular Models

NCT02812511

Sponsor

University Hospital, Bordeaux

Status

Terminated

Last Update Posted

Jun 8, 2026Actual

Enrollment

9Actual

Phase

Not Applicable

Conditions

Costello Syndrome

Interventions

Biopsy

Countries

France

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Jun 2016

Overall Recruitment Status or Expanded Access Status

Terminated

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Target number of inclusion not reached

Expanded Access Info

Start Date

Jun 2015

Primary Completion Date

Jul 2015Actual

Completion Date

Jul 2015Actual

First Submitted Date

Jun 14, 2016

First Submission Date that Met QC Criteria

Jun 21, 2016

First Posted Date

Jun 24, 2016Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jun 5, 2026

Last Update Posted Date

Jun 8, 2026Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Detailed Description

Not provided

Design Module

Study Type

Interventional

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not Applicable

Interventional Study Design

Allocation

Biospecimen

No data available

No data is available for this block.

Enrollment

9Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Skin biopsy	Experimental		Procedure: Biopsy

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Biopsy	Procedure	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.

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Measurement of HRASG12V mutation on mitochondrial energy metabolism		1 day

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

2 Years

Maximum Age

17 Years

Standard Ages

Child

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Not provided

Locations

Facility	Status	City	State	ZIP	Country	Contacts
CHU de Bordeaux		Bordeaux	Aquitaine	33000	France

IPD Sharing Statement Module

Plan to Share IPD

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D056685	Costello Syndrome

Ancestor Terms

ID	Term
D019465	Craniofacial Abnormalities
D009139	Musculoskeletal Abnormalities
D009140	Musculoskeletal Diseases
D000015	Abnormalities, Multiple

Browse Leaves

Not provided

Browse Branches

Not provided

Intervention Browse Module

MeSH Terms

ID	Term
D001706	Biopsy

Ancestor Terms

ID	Term
D003581	Cytodiagnosis
D003584	Cytological Techniques
D019411	Clinical Laboratory Techniques
D019937	Diagnostic Techniques and Procedures

Browse Leaves

Not provided

Browse Branches

Not provided