Clinical trial NCT01746121: Amelogenesis Imperfecta
Official title: Clinical and Molecular Study of Amelogenesis Imperfecta
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Amelogenesis Imperfecta
Lead sponsor: University Hospital, Strasbourg, France
Sponsor class: OTHER
First posted: 2012-12-10
Enrollment: 600
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: FAMILY_BASED
Time perspective: CROSS_SECTIONAL
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.

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.


Eligibility 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

Primary outcomes:
measure: Natural history of Amelogenesis Imperfecta
timeFrame: at day of enrollment
Secondary outcomes:
measure: Phenotype of Amelogenesis Imperfecta
timeFrame: at day of enrollment
Other outcomes:
measure: Genetic Bases of Amelogenesis Imperfecta
timeFrame: within 3 years after enrollment
measure: Ultrastructure of teeth hard tissues
timeFrame: within 3 years after enrollment
Locations:
city: Strasbourg
country: France
facility: Hôpitaux Universitaires de Strasbourg
state: Alsace
Study officials:
affiliation: University Hospital of Strasbourg
name: Bloch-Zupan Agnes, DChD, PhD, HDR, PU-PH
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.