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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT04056858
Recruitment Status : Completed
First Posted : August 14, 2019
Last Update Posted : August 14, 2019
Information provided by (Responsible Party):
University Hospital, Bordeaux

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.

Condition or disease
Goldenhar Syndrome Oculoauriculovertebral Dysplasia

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.

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Study Type : Observational
Actual Enrollment : 248 participants
Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Identification and Investigation of a Gene Involved in Monogenic Forms of Goldenhar Syndrome.
Actual Study Start Date : September 29, 2012
Actual Primary Completion Date : January 8, 2014
Actual Study Completion Date : January 8, 2014

Primary Outcome Measures :
  1. presence of sequence variation [ Time Frame: At the screening ]
    Identification of the first gene involved in Goldenhar syndrome

Biospecimen Retention:   Samples With DNA

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

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT04056858

Sponsors and Collaborators
University Hospital, Bordeaux
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Principal Investigator: Caroline ROORYCK THAMBO, Dr Bordeaux Universitu Hospital
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Responsible Party: University Hospital, Bordeaux Identifier: NCT04056858    
Other Study ID Numbers: CHU BX 2012/11
First Posted: August 14, 2019    Key Record Dates
Last Update Posted: August 14, 2019
Last Verified: August 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Keywords provided by University Hospital, Bordeaux:
exome sequencing
Additional relevant MeSH terms:
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Goldenhar Syndrome
Pathologic Processes
Mandibulofacial Dysostosis
Craniofacial Dysostosis
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Congenital Abnormalities