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Amelogenesis Imperfecta

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ClinicalTrials.gov Identifier: NCT01746121
Recruitment Status : Terminated
First Posted : December 10, 2012
Last Update Posted : July 11, 2018
Sponsor:
Information provided by (Responsible Party):
University Hospital, Strasbourg, France

Study Description
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Brief 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.


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

Study Design
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Study Type : Observational
Actual Enrollment : 600 participants
Observational Model: Family-Based
Time Perspective: Cross-Sectional
Official Title: Clinical and Molecular Study of Amelogenesis Imperfecta
Actual Study Start Date : November 2009
Actual Primary Completion Date : March 2013
Actual Study Completion Date : January 2016

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort Intervention/treatment
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.


Outcome Measures
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Primary Outcome Measures :
  1. Natural history of Amelogenesis Imperfecta [ Time Frame: at day of enrollment ]
    Familial, medical, dental history


Secondary Outcome Measures :
  1. Phenotype of Amelogenesis Imperfecta [ Time Frame: at day of enrollment ]
    Clinical and radiographic examination Type of enamel defects Associated dental or craniofacial anomalies


Other Outcome Measures:
  1. Genetic Bases of Amelogenesis Imperfecta [ Time Frame: within 3 years after enrollment ]
    Genetic analysis

  2. Ultrastructure of teeth hard tissues [ Time Frame: within 3 years after enrollment ]
    Ultrastructure analysis of teeth hard tissues


Biospecimen Retention:   Samples With DNA
saliva

Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
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
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01746121


Locations
France
Hôpitaux Universitaires de Strasbourg
Strasbourg, Alsace, France, 67091
Sponsors and Collaborators
University Hospital, Strasbourg, France
Investigators
Principal Investigator: Bloch-Zupan Agnes, DChD, PhD, HDR, PU-PH University Hospital of Strasbourg
More Information
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Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Prasad MK, Geoffroy V, Vicaire S, Jost B, Dumas M, Le Gras S, Switala M, Gasse B, Laugel-Haushalter V, Paschaki M, Leheup B, Droz D, Dalstein A, Loing A, Grollemund B, Muller-Bolla M, Lopez-Cazaux S, Minoux M, Jung S, Obry F, Vogt V, Davideau JL, Davit-Beal T, Kaiser AS, Moog U, Richard B, Morrier JJ, Duprez JP, Odent S, Bailleul-Forestier I, Rousset MM, Merametdijan L, Toutain A, Joseph C, Giuliano F, Dahlet JC, Courval A, El Alloussi M, Laouina S, Soskin S, Guffon N, Dieux A, Doray B, Feierabend S, Ginglinger E, Fournier B, de la Dure Molla M, Alembik Y, Tardieu C, Clauss F, Berdal A, Stoetzel C, Manière MC, Dollfus H, Bloch-Zupan A. A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. J Med Genet. 2016 Feb;53(2):98-110. doi: 10.1136/jmedgenet-2015-103302. Epub 2015 Oct 26.

Responsible Party: University Hospital, Strasbourg, France
ClinicalTrials.gov Identifier: NCT01746121     History of Changes
Other Study ID Numbers: 4266
First Posted: December 10, 2012    Key Record Dates
Last Update Posted: July 11, 2018
Last Verified: February 2013

Additional relevant MeSH terms:
Amelogenesis Imperfecta
Dental Enamel Hypoplasia
Tooth Abnormalities
Stomatognathic System Abnormalities
 Stomatognathic Diseases
Tooth Diseases
Congenital Abnormalities