NCT02812511

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
9

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Jun 2015

Shorter than P25 for not_applicable

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

June 1, 2015

Completed
1 month until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 1, 2015

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

July 1, 2015

Completed
12 months until next milestone

First Submitted

Initial submission to the registry

June 14, 2016

Completed
10 days until next milestone

First Posted

Study publicly available on registry

June 24, 2016

Completed
Last Updated

June 24, 2016

Status Verified

June 1, 2016

Enrollment Period

1 month

First QC Date

June 14, 2016

Last Update Submit

June 21, 2016

Conditions

Costello Syndrome

Outcome Measures

Primary Outcomes (1)

  • Measurement of HRASG12V mutation on mitochondrial energy metabolism

    1 day

Study Arms (1)

Skin biopsy

EXPERIMENTAL
Procedure: Biopsy

Interventions

BiopsyPROCEDURE

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.

Skin biopsy

Eligibility Criteria

Age2 Years - 17 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17)

You may qualify if:

  • Children aged over 2 years and under 18
  • Children with a Costello Syndrome or Syndrome Cardio-Facio-Cutaneous

You may not qualify if:

  • Previous history allergic to anesthetics

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

CHU de Bordeaux

Bordeaux, Aquitaine, 33000, France

Location

MeSH Terms

Conditions

Costello Syndrome

Interventions

Biopsy

Condition Hierarchy (Ancestors)

Craniofacial AbnormalitiesMusculoskeletal AbnormalitiesMusculoskeletal DiseasesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Diseases, Inborn

Intervention Hierarchy (Ancestors)

CytodiagnosisCytological TechniquesClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisSpecimen HandlingDiagnostic Techniques, SurgicalSurgical Procedures, OperativeInvestigative Techniques

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
BASIC SCIENCE
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

June 14, 2016

First Posted

June 24, 2016

Study Start

June 1, 2015

Primary Completion

July 1, 2015

Study Completion

July 1, 2015

Last Updated

June 24, 2016

Record last verified: 2016-06

Data Sharing

IPD Sharing
Will not share

Locations

FR(1)