NCT01746121

Amelogenesis Imperfecta

Clinical and Molecular Study of Amelogenesis Imperfecta

• Status: Terminated
• Phase: —
• Study type: Observational
• Enrollment: 600 (actual)
• Sponsor: University Hospital, Strasbourg, France · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Conditions

• Amelogenesis Imperfecta

Interventions

Type	Name	Description
GENETIC	Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth.

Timeline

• Start date: 2009-11-01
• Primary completion: 2013-03-01
• Completion: 2016-01-01
• First posted: 2012-12-10
• Last updated: 2018-07-11

Locations

1 site across 1 country: France