Amelogenesis Imperfecta

Terminated

• Conditions: Amelogenesis Imperfecta
• Interventions: Genetic: Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth.

• Registration Number: NCT01746121
• Lead Sponsor: University Hospital, Strasbourg, France

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 Description

Not available

Study Timeline

• Study Start: 2009-11
• Study First Submitted: 2012-10-22
• Study First Submitted QC: 2012-12-06
• Study First Posted: 2012-12-10
• Status Verified: 2013-02
• Primary Completion: 2013-03
• Study Completion: 2016-01
• Last Update Submitted: 2018-07-10
• Last Update Posted: 2018-07-11

Recruitment & Eligibility

• Status: TERMINATED
• Sex: All
• Target Recruitment: 600

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Amelogenesis Imperfecta	Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth.	Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth
healthy family members	Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth.	Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth

Primary Outcome Measures

Name	Time	Method
Natural history of Amelogenesis Imperfecta	at day of enrollment	Familial, medical, dental history

Secondary Outcome Measures

Name	Time	Method
Phenotype of Amelogenesis Imperfecta	at day of enrollment	Clinical and radiographic examination Type of enamel defects Associated dental or craniofacial anomalies

Trial Locations

Locations (1)

Hôpitaux Universitaires de Strasbourg; 🇫🇷 Strasbourg, Alsace, France