Amelogenesis Imperfecta

University Hospital, Strasbourg, France

Status: Terminated

Conditions: Amelogenesis Imperfecta

Treatments: Genetic: Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth.

Study type: Observational

Funder types: Other

Identifiers

NCT01746121

4266

Details and patient eligibility

About

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.

Enrollment: 600 patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Patient presenting with AI
• New patient or patient already known in the center
• Child (in his primary dentition) or adult
• Man or woman
• Having signed a consent form or accepted to participate to the study
• Patient affiliated to social security
• Validation of the inclusion by the principal investigator looking at the patient file

Exclusion criteria

• Patient with acquired enamel defects
• Patient whose clinical diagnostic is not possible
• Patient whose clinical file does not contain teeth photos
• Patient who has not signed a consent form and accepted to participate to the study
• Patient who is not affiliated to social security.
• Non validation of the inclusion by the principal investigator looking at the patient file

Trial design

600 participants in 2 patient groups

Amelogenesis Imperfecta

Description:

Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth

Treatment:

Genetic: Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth.

healthy family members

Description:

Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth

Treatment:

Genetic: Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth.