Amelogenesis Imperfecta

This study is currently recruiting participants. (see Contacts and Locations)
Verified February 2013 by University Hospital, Strasbourg, France
Sponsor:
Information provided by (Responsible Party):
University Hospital, Strasbourg, France
ClinicalTrials.gov Identifier:
NCT01746121
First received: October 22, 2012
Last updated: February 4, 2013
Last verified: February 2013
  Purpose

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

saliva


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.

  Eligibility

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.

Criteria

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 ClinicalTrials.gov identifier: NCT01746121

Contacts
Contact: Agnès BLOCH-ZUPAN, PUPH 03 88 11 69 10 agnes.bloch-zupan@unistra.fr

Locations
France
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
Investigators
Principal Investigator: Bloch-Zupan Agnes, DChD, PhD, HDR, PU-PH University Hospital of Strasbourg
  More Information

No publications provided

Responsible Party: University Hospital, Strasbourg, France
ClinicalTrials.gov 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

ClinicalTrials.gov processed this record on August 01, 2014