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Amelogenesis Imperfecta

The recruitment status of this study is unknown because the information has not been verified recently.
Verified February 2013 by University Hospital, Strasbourg, France.
Recruitment status was  Recruiting
Information provided by (Responsible Party):
University Hospital, Strasbourg, France Identifier:
First received: October 22, 2012
Last updated: February 4, 2013
Last verified: February 2013

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.

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

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Cross-Sectional
Official Title: Clinical and Molecular Study of Amelogenesis Imperfecta

Resource links provided by NLM:

Further study details as provided by University Hospital, Strasbourg, France:

Primary Outcome Measures:
  • Natural history of Amelogenesis Imperfecta [ Time Frame: at day of enrollment ] [ Designated as safety issue: No ]
    Familial, medical, dental history

Secondary Outcome Measures:
  • Phenotype of Amelogenesis Imperfecta [ Time Frame: at day of enrollment ] [ Designated as safety issue: No ]
    Clinical and radiographic examination Type of enamel defects Associated dental or craniofacial anomalies

Other Outcome Measures:
  • Genetic Bases of Amelogenesis Imperfecta [ Time Frame: within 3 years after enrollment ] [ Designated as safety issue: No ]
    Genetic analysis

  • Ultrastructure of teeth hard tissues [ Time Frame: within 3 years after enrollment ] [ Designated as safety issue: No ]
    Ultrastructure analysis of teeth hard tissues

Biospecimen Retention:   Samples With DNA

Estimated Enrollment: 600
Study Start Date: November 2009
Estimated Primary Completion Date: March 2013 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Amelogenesis Imperfecta
Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth
Genetic: 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
Genetic: Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth.


Ages Eligible for Study:   Child, Adult, Senior
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
The recruitment of patients comes from several sources. A first cohort of 40 families is already followed by the reference center of Strasbourg. The reference center for rare diseases dental manifestations of Strasbourg recruiting patients at regional, interregional, national and international scale.

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01746121

Contact: Agnès BLOCH-ZUPAN, PUPH 03 88 11 69 10

Hôpitaux Universitaires de Strasbourg Recruiting
Strasbourg, Alsace, France, 67091
Sub-Investigator: Hélène DOLLFUS, PUPH         
Sub-Investigator: Béatrice RICHARD, MCUPH         
Sub-Investigator: D. LACOMBE, PUPH         
Sub-Investigator: Corinne TARDIEU, PUPH         
Sub-Investigator: Nicole PHILIP, PUPH         
Sub-Investigator: Jean Louis SIXOU, PUPH         
Sub-Investigator: S. ODENT, PUPH         
Sub-Investigator: Jean Jacques MORRIER, PUPH         
Sub-Investigator: Marie-Monique ROUSSET, PUPH         
Sub-Investigator: S. MANOUVRIER-HANU, PUPH         
Sub-Investigator: Marie-Cécile MANIERE, PUPH         
Sub-Investigator: William BACON, PUPH         
Sub-Investigator: Matthieu SCHMITTBUHL, PUPH         
Sub-Investigator: Fréderic OBRY, MCUPH         
Sub-Investigator: Etienne WALTMANN, MCUPH         
Sub-Investigator: François CLAUSS, PUPH         
Sub-Investigator: Annelyse GARRET, AH         
Sub-Investigator: Jean-Christophe FARGES, PUPH         
Sub-Investigator: Jean Pierre DUPREZ, MCUPH         
Sub-Investigator: Béatrice TIHVICHON-PRINCE, AHU         
Sub-Investigator: Benoît LEHEIS, AHU         
Sub-Investigator: Caroline DELFOSSE, MCUPH         
Sub-Investigator: Joel FERRI, PUPH         
Sponsors and Collaborators
University Hospital, Strasbourg, France
Principal Investigator: Bloch-Zupan Agnes, DChD, PhD, HDR, PU-PH University Hospital of Strasbourg
  More Information

Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: University Hospital, Strasbourg, France Identifier: NCT01746121     History of Changes
Other Study ID Numbers: 4266 
Study First Received: October 22, 2012
Last Updated: February 4, 2013
Health Authority: France: Direction Générale de la Santé

Additional relevant MeSH terms:
Amelogenesis Imperfecta
Dental Enamel Hypoplasia
Tooth Abnormalities
Stomatognathic System Abnormalities
Stomatognathic Diseases
Tooth Diseases
Congenital Abnormalities processed this record on October 21, 2016