NCT04056858

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.

Trial Health

100
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
248

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Sep 2012

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

September 29, 2012

Completed
1.3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 8, 2014

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 8, 2014

Completed
5.6 years until next milestone

First Submitted

Initial submission to the registry

August 12, 2019

Completed
2 days until next milestone

First Posted

Study publicly available on registry

August 14, 2019

Completed
Last Updated

August 14, 2019

Status Verified

August 1, 2019

Enrollment Period

1.3 years

First QC Date

August 12, 2019

Last Update Submit

August 12, 2019

Conditions

Goldenhar SyndromeOculoauriculovertebral Dysplasia

Keywords

array-CGHexome sequencing

Outcome Measures

Primary Outcomes (1)

  • presence of sequence variation

    Identification of the first gene involved in Goldenhar syndrome

    At the screening

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-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

You may qualify if:

  • Spectrum of oculoauriculovertebral dysplasia minimal features include unilateral microtia and hemifacial microsomia

You may not qualify if:

  • Absence of minimal spectrum of oculoauriculovertebral dysplasia features, molecular anomaly identified, other diagnosis

Contact the study team to confirm eligibility.

Sponsors & Collaborators

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

MeSH Terms

Conditions

Goldenhar Syndrome

Condition Hierarchy (Ancestors)

Mandibulofacial DysostosisCraniofacial DysostosisDysostosesBone Diseases, DevelopmentalBone DiseasesMusculoskeletal DiseasesCraniofacial AbnormalitiesMusculoskeletal AbnormalitiesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

  • Caroline ROORYCK THAMBO, Dr

    Bordeaux Universitu Hospital

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
RETROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

August 12, 2019

First Posted

August 14, 2019

Study Start

September 29, 2012

Primary Completion

January 8, 2014

Study Completion

January 8, 2014

Last Updated

August 14, 2019

Record last verified: 2019-08

Data Sharing

IPD Sharing
Will not share