Study of a Candidate Gene Involved in Goldenhar Syndrome. (GOLDGEN)

August 12, 2019 updated by: University Hospital, Bordeaux

Identification and Investigation of a Gene Involved in Monogenic Forms of Goldenhar Syndrome.

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

Study Overview

Status

Completed

Conditions

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.

Study Type

Observational

Enrollment (Actual)

248

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

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

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Retrospective

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Bordeaux

Investigators

  • Principal Investigator: Caroline ROORYCK THAMBO, Dr, Bordeaux Universitu Hospital

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

September 29, 2012

Primary Completion (Actual)

January 8, 2014

Study Completion (Actual)

January 8, 2014

Study Registration Dates

First Submitted

August 12, 2019

First Submitted That Met QC Criteria

August 12, 2019

First Posted (Actual)

August 14, 2019

Study Record Updates

Last Update Posted (Actual)

August 14, 2019

Last Update Submitted That Met QC Criteria

August 12, 2019

Last Verified

August 1, 2019

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • CHU BX 2012/11

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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