Amelogenesis Imperfecta

Amelogenesis Imperfecta Clinical Trial

Official title:

Clinical and Molecular Study of Amelogenesis Imperfecta

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT01746121
• Other study ID #: 4266
• Status: Terminated
• Start date: November 2009
• Est. completion date: January 2016

Study information

• Verified date: February 2013
• Source: University Hospital, Strasbourg, France
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 600
• Est. completion date: January 2016
• Est. primary completion date: March 2013
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Amelogenesis Imperfecta

Intervention

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

Locations

Country	Name	City	State
France	Hôpitaux Universitaires de Strasbourg	Strasbourg	Alsace

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Strasbourg, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Genetic Bases of Amelogenesis Imperfecta	Genetic analysis	within 3 years after enrollment
Other	Ultrastructure of teeth hard tissues	Ultrastructure analysis of teeth hard tissues	within 3 years after enrollment
Primary	Natural history of Amelogenesis Imperfecta	Familial, medical, dental history	at day of enrollment
Secondary	Phenotype of Amelogenesis Imperfecta	Clinical and radiographic examination Type of enamel defects Associated dental or craniofacial anomalies	at day of enrollment