Study of a Candidate Gene Involved in 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.

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Key information

Conditions

Goldenhar Syndrome Bone Diseases Bone Diseases, Developmental Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Craniofacial Abnormalities Craniofacial Dysostosis Dysostoses Mandibulofacial Dysostosis Musculoskeletal Abnormalities Musculoskeletal Diseases Oculoauriculovertebral Dysplasia

Sex eligibility

All sexes

Study type

Observational

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

presence of sequence variation

Time frame: At the screening

Identification of the first gene involved in Goldenhar syndrome

Sponsors and collaborators

Lead sponsor

University Hospital, Bordeaux

Other

Registry information

Official study title

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

Acronym: GOLDGEN

Important dates

Study start: 2012
Primary completion: 2014
Study completion: 2014
First posted: Aug 14, 2019
Registry last updated: Aug 14, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed