Clinical Trial: Amelogenesis Imperfecta
Study Status: Terminated
Recruit Status: Unknown status
Study Type: Observational
Official Title: Clinical and Molecular Study of Amelogenesis Imperfecta
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 formation/mineralization 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.
Detailed Summary:
Sponsor: University Hospital, Strasbourg, France
Current Primary Outcome: Natural history of Amelogenesis Imperfecta [ Time Frame: at day of enrollment ]
Original Primary Outcome: Same as current
Current Secondary Outcome: Phenotype of Amelogenesis Imperfecta [ Time Frame: at day of enrollment ]
Original Secondary Outcome: Same as current
Information By: University Hospital, Strasbourg, France
Dates:
Date Received: October 22, 2012
Date Started: November 2009
Date Completion:
Last Updated: February 4, 2013
Last Verified: February 2013