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TerminatedNCT01746121Updated Jul 11, 2018

Amelogenesis Imperfecta

An observational study in Amelogenesis Imperfecta, sponsored by University Hospital, Strasbourg, France. Terminated at 1 site in France. Per ClinicalTrials.gov, last updated 2018-07-11.

Sponsored by University Hospital, Strasbourg, France · Observational

Study type
Observational
Model
Family-based
Time perspective
Cross-sectional
Enrollment
600
Sex
All
01

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.

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Conditions studied

  • Amelogenesis Imperfecta
03

Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
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.

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

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
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Study design

Observational model
Family-based
Time perspective
Cross-sectional
Enrollment
600 participants (actual)
Patient registry
No
Biospecimen retention
Samples with dna

Groups and cohorts

  • 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.

Interventions

  • GeneticSalivary and blood sampling, as part of routine care. Collection of exfoliated teeth.
05

What researchers measure

Primary outcomes

  1. Natural history of Amelogenesis Imperfecta

    Familial, medical, dental history

    Time frame: at day of enrollment

Secondary outcomes

  1. Phenotype of Amelogenesis Imperfecta

    Clinical and radiographic examination Type of enamel defects Associated dental or craniofacial anomalies

    Time frame: at day of enrollment

Other outcomes

  1. Genetic Bases of Amelogenesis Imperfecta

    Genetic analysis

    Time frame: within 3 years after enrollment

  2. Ultrastructure of teeth hard tissues

    Ultrastructure analysis of teeth hard tissues

    Time frame: within 3 years after enrollment

06

Study locations

1 site
  • Hôpitaux Universitaires de Strasbourg
    Strasbourg, Alsace 67091, France
07

References and documents

Publications

  • 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, Maniere 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. PubMed 26502894 ↗
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Registry details

Key details

Study ID
NCT01746121
Lead sponsor
University Hospital, Strasbourg, France
Responsible party
Sponsor
First posted
Dec 10, 2012
Start date
Nov 2009
Primary completion
Mar 2013
Completion
Jan 2016
Last update
Jul 11, 2018

Study contacts

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

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

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This study is terminated, as verified in Feb 2013. You cannot join it, but the record below documents what was studied.

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