Study of a Candidate Gene Involved in Goldenhar Syndrome.

NCT ID: NCT04056858

Last Updated: 2019-08-14

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 248 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2012-09-29
• Study Completion Date: 2014-01-08

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.

Conditions

Goldenhar Syndrome; Oculoauriculovertebral Dysplasia

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: RETROSPECTIVE

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

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

University Hospital, Bordeaux

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Caroline ROORYCK THAMBO, Dr

Role: PRINCIPAL_INVESTIGATOR

Bordeaux Universitu Hospital

Other Identifiers

CHU BX 2012/11

Identifier Type: -

Identifier Source: org_study_id