Ignite Creation Date:
2025-12-25 @ 12:06 AM
Ignite Modification Date:
2025-12-25 @ 10:05 PM
Study NCT ID:
NCT04056858
Status:
COMPLETED
Last Update Posted:
2019-08-14
First Post:
2019-08-12
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Study of a Candidate Gene Involved in Goldenhar Syndrome.
Sponsor:
University Hospital, Bordeaux
Organization:
Study Overview
Official Title:
Identification and Investigation of a Gene Involved in Monogenic Forms of Goldenhar Syndrome.
Status:
COMPLETED
Status Verified Date:
2019-08
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
GOLDGEN
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.
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 Oversight
Has Oversight DMC:
False
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?: