Study of a Candidate Gene Involved in Goldenhar Syndrome. (GOLDGEN)
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|ClinicalTrials.gov Identifier: NCT04056858|
Recruitment Status : Completed
First Posted : August 14, 2019
Last Update Posted : August 14, 2019
|Condition or disease|
|Goldenhar Syndrome Oculoauriculovertebral Dysplasia|
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.
|Study Type :||Observational|
|Actual Enrollment :||248 participants|
|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|
- 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
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 ClinicalTrials.gov identifier (NCT number): NCT04056858
|Principal Investigator:||Caroline ROORYCK THAMBO, Dr||Bordeaux Universitu Hospital|