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Amelogenesis Imperfecta

NCT01746121 · Status: TERMINATED · Type: OBSERVATIONAL · Enrollment: 600

Last updated 2018-07-11

No results posted yet for this study

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

GENETIC

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

Sponsors & Collaborators

  • University Hospital, Strasbourg, France

    lead OTHER

Principal Investigators

  • Bloch-Zupan Agnes, DChD, PhD, HDR, PU-PH · University Hospital of Strasbourg

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2009-11-30
Primary Completion
2013-03-31
Completion
2016-01-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01746121 on ClinicalTrials.gov