Amelogenesis Imperfecta
Clinical and Molecular Study of Amelogenesis Imperfecta
1 other identifier
observational
600
1 country
1
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Nov 2009
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
November 1, 2009
CompletedFirst Submitted
Initial submission to the registry
October 22, 2012
CompletedFirst Posted
Study publicly available on registry
December 10, 2012
CompletedPrimary Completion
Last participant's last visit for primary outcome
March 1, 2013
CompletedStudy Completion
Last participant's last visit for all outcomes
January 1, 2016
CompletedJuly 11, 2018
February 1, 2013
3.3 years
October 22, 2012
July 10, 2018
Conditions
Outcome Measures
Primary Outcomes (1)
Natural history of Amelogenesis Imperfecta
Familial, medical, dental history
at day of enrollment
Secondary Outcomes (1)
Phenotype of Amelogenesis Imperfecta
at day of enrollment
Other Outcomes (2)
Genetic Bases of Amelogenesis Imperfecta
within 3 years after enrollment
Ultrastructure of teeth hard tissues
within 3 years after enrollment
Study Arms (2)
Amelogenesis Imperfecta
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
Interventions
Eligibility Criteria
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.
You may qualify if:
- 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
You may not qualify if:
- 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.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
Hôpitaux Universitaires de Strasbourg
Strasbourg, Alsace, 67091, France
Related Publications (2)
Bloch-Zupan A, Rey T, Jimenez-Armijo A, Kawczynski M, Kharouf N; O-Rare consortium; Dure-Molla M, Noirrit E, Hernandez M, Joseph-Beaudin C, Lopez S, Tardieu C, Thivichon-Prince B; ERN Cranio Consortium; Dostalova T, Macek M Jr; International Consortium; Alloussi ME, Qebibo L, Morkmued S, Pungchanchaikul P, Orellana BU, Maniere MC, Gerard B, Bugueno IM, Laugel-Haushalter V. Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification. Front Physiol. 2023 May 9;14:1130175. doi: 10.3389/fphys.2023.1130175. eCollection 2023.
PMID: 37228816DERIVEDPrasad 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.
PMID: 26502894DERIVED
Biospecimen
saliva
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Bloch-Zupan Agnes, DChD, PhD, HDR, PU-PH
University Hospital of Strasbourg
Study Design
- Study Type
- observational
- Observational Model
- FAMILY BASED
- Time Perspective
- CROSS SECTIONAL
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
October 22, 2012
First Posted
December 10, 2012
Study Start
November 1, 2009
Primary Completion
March 1, 2013
Study Completion
January 1, 2016
Last Updated
July 11, 2018
Record last verified: 2013-02