Study of a Candidate Gene Involved in Goldenhar Syndrome.

Goldenhar Syndrome Clinical Trial

— GOLDGEN  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04056858
• Other study ID #: CHU BX 2012/11
• Status: Completed
• Start date: September 29, 2012
• Est. completion date: January 8, 2014

Study information

• Verified date: August 2019
• Source: University Hospital, Bordeaux
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 248
• Est. completion date: January 8, 2014
• Est. primary completion date: January 8, 2014
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Goldenhar Syndrome
• Oculoauriculovertebral Dysplasia
• Syndrome

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Bordeaux

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	presence of sequence variation	Identification of the first gene involved in Goldenhar syndrome	At the screening