Study of a Candidate Gene Involved in Goldenhar Syndrome. | NCT04056858

Studies
Study of a Candidate Gene Involved in Goldenhar Syndrome.

NCT04056858

Sponsor

University Hospital, Bordeaux

Status

Completed

Last Update Posted

Aug 14, 2019Actual

Enrollment

248Actual

Phase

Not provided

Conditions

Goldenhar Syndrome
Oculoauriculovertebral Dysplasia

Interventions

Not provided

Countries

Not provided

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

Aug 2019

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Sep 29, 2012Actual

Primary Completion Date

Jan 8, 2014Actual

Completion Date

Jan 8, 2014Actual

First Submitted Date

Aug 12, 2019

First Submission Date that Met QC Criteria

Aug 12, 2019

First Posted Date

Aug 14, 2019Actual

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

Aug 12, 2019

Last Update Posted Date

Aug 14, 2019Actual

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 aim of this study is to identify of the first gene involved in the Goldenhar syndrome in a cohort of 120 affected patients.

Detailed Description

Goldenhar syndrome belongs to the heterogeneous spectrum of oculoauriculovertebral dysplasia. Several chromosomal abnormalities have been described associated with this spectrum, and furthermore mutations in different genes of development cause abnormalities of the jaw or facial asymmetries in human or mouse. To date, no gene has been identified as formally involved in the genesis of the OAVS, despite evidence of familial cases, mostly with autosomal dominant inheritance.

The aim of this study is to identify of the first gene involved in the Goldenhar syndrome in a cohort of 120 affected patients.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

248Actual

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
presence of sequence variation	Identification of the first gene involved in Goldenhar syndrome	At the screening

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Spectrum of oculoauriculovertebral dysplasia minimal features include unilateral microtia and hemifacial microsomia

Exclusion Criteria:

Absence of minimal spectrum of oculoauriculovertebral dysplasia features, molecular anomaly identified, other diagnosis

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

A cohort of 120 patients affected with Goldenhar/spectrum of oculoauriculovertebral dysplasia , whose phenotype is finely characterized, and that were analyzed using an oligonucleotide array-CGH pangenomic approach

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Caroline ROORYCK THAMBO, Dr	Bordeaux Universitu Hospital	Principal Investigator

Locations

Not provided

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
D006053	Goldenhar Syndrome

Ancestor Terms

ID	Term
D008342	Mandibulofacial Dysostosis
D003394	Craniofacial Dysostosis
D004413	Dysostoses
D001848	Bone Diseases, Developmental

Browse Leaves

Not provided

Browse Branches

Not provided

Description

The informed consent of the patients has already been gathered during the genetic consultation prior to any molecular analysis.

The samples received are:

- 2 tubes of blood on EDTA or 1 aliquot of DNA