Ignite Creation Date:
2024-05-06 @ 1:09 AM
Last Modification Date:
2024-10-26 @ 11:00 AM
Study NCT ID:
NCT01746121
Status:
TERMINATED
Last Update Posted:
2018-07-11
First Post:
2012-10-22
Brief Title:
Amelogenesis Imperfecta
Sponsor:
University Hospital Strasbourg France
Organization:
University Hospital Strasbourg France
Study Overview
Official Title:
Clinical and Molecular Study of Amelogenesis Imperfecta
Status:
TERMINATED
Status Verified Date:
2013-02
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:
None
Brief Summary:
Amelogenesis Imperfecta AI are a heterogeneous group of rare genetic diseases transmitted according to various mode of inheritance X-linked autosomal dominant autosomal recessive affecting the formationmineralization of tooth enamel These diseases exist in isolation with clinical manifestations limited to the oral cavity or may be associated to other symptoms in syndromes Many different genes AMELX ENAM ENAMELYSIN or MMP20 KLK4 DLX3 FAM83H FAM20A WDR72 coding for enamel matrix proteins enamel matrix degrading proteins proteins involved in hydroxyapatite formation and growth and mineralization processes have been discovered responsible for the clinical phenotypes hypoplastic hypomineralized hypomature encountered in AI
Genes involved in enamel formation but not yet identified in association with any form of AI include AMELY AMELOBLASTIN TUFTELIN AMELOTIN A Pin protein ODAM Odontogenic ameloblast associated
In this research protocol the investigators explore the phenotype including the enamel ultrastructure and the genotype of a cohort of patients presenting AI
Genes involved in enamel formation but not yet identified in association with any form of AI include AMELY AMELOBLASTIN TUFTELIN AMELOTIN A Pin protein ODAM Odontogenic ameloblast associated
In this research protocol the investigators explore the phenotype including the enamel ultrastructure and the genotype of a cohort of patients presenting AI
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
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?:
None