Study of Factors of Genetic Susceptibility Associated to Severe Caries Phenotype (Cariogene)

Study of Factors of Genetic Susceptibility Associated to Severe Caries Phenotype in Young Patients. First Approach by Systematic Screening of Candidate Genes

Alteration of the post- eruptive enamel microstructure due to a mutation of a gene coding for a matrix protein could increase the susceptibility of the enamel to caries after tooth eruption. To identify in young patients with severe caries incidence, the occurrence of mutations in several candidate genes which result in an alteration of the enamel microstructure that could explain the high caries susceptibility of the patient.

Study Overview

• Status: Completed
• Conditions: Dental Caries
• Intervention / Treatment: Genetic: mutation

Detailed Description

Although its prevalence has decreased dramatically in European countries, dental caries remains a burden for the society and especially for certain groups of the population. For example, 80% of the carious lesions are diagnosed in about 20% of the children. For years, the aetiology of this disease has been mainly related to environmental factors but recent data support the possibility of a human genetic contribution. Alteration of the post- eruptive enamel microstructure due to a mutation of a gene coding for a matrix protein could increase the susceptibility of the enamel to caries after tooth eruption. The main objective of this study will be to identify in young patients with severe caries incidence, the occurrence of mutations in several candidate genes which result in an alteration of the enamel microstructure that could explain the high caries susceptibility of the patient. With this aim, we will carry out a case- control multicentre European study on 250 young patients presenting several carious lesions and 160 young adults totally caries free. Patients with systemic or enamel pathologies such as amelogenesis imperfecta will not be included in the study. The study will consist of 2 visits, 1: inclusion and genetic test based on a salivary sample and 2: after 6 months, communication of the genetic test result to the patient and his parents. The main evaluation criteria will be the finding of a mutation on the candidates genes not resulting in an amelogenesis imperfecta phenotype but associated to a severe caries phenotype. If a direct relation between a mutation and a severe caries phenotype was shown, all the classical approaches, prevention protocols and treatments of caries would need to be reconsidered.

• Study Type: Interventional
• Enrollment (Actual): 390
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Paris, France, 75018
    • Hôpital Bretonneau

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 2 years to 30 years (Child, Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

Description

Inclusion Criteria:

• Patients : presenting at least 3 active carious lesions aged 2 to 16 years old, written informed consent
• Volunteers : young adults 18 to 30 years old totally caries free

Exclusion Criteria:

• patients with systemic or enamel pathologies such as amelogenesis imperfecta
• osteogenesis imperfecta
• hypophosphatemia
• hypodermal dysplasia
• syndrome of Prader Willi
• Fluoroses
• toxic enamel dysplasia
• pregnancy or breast-feeding
• HYPOSIALORRHEA
• immunodepression status
• chronicle diseases
• anorexia or bulimia

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Basic Science
• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Active Comparator: A; 250 young patients presenting several carious lesions	Genetic: mutation; a mutation of a gene coding; Other Names: a mutation of a gene coding
Placebo Comparator: B; 160 young adults totally caries free	Genetic: mutation; a mutation of a gene coding; Other Names: a mutation of a gene coding

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
the finding of a mutation on the candidates genes not resulting in an amelogenesis imperfecta phenotype but associated to a severe caries phenotype	baseline, 6 months

Secondary Outcome Measures

Outcome Measure	Time Frame
If a direct relation between a mutation and a severe caries phenotype was shown, all the classical approaches, prevention protocols and treatments of caries would need to be reconsidered.	6 months

Collaborators and Investigators

• Sponsor: Assistance Publique - Hôpitaux de Paris
• Investigators: Study Director: Catherine Miller, MCU-PH, Assistance Publique - Hôpitaux de Paris

Study record dates

Study Major Dates

• Study Start: October 1, 2007
• Primary Completion (Actual): November 1, 2009
• Study Completion (Actual): November 1, 2009

Study Registration Dates

• First Submitted: October 4, 2007
• First Submitted That Met QC Criteria: October 4, 2007
• First Posted (Estimate): October 8, 2007

Study Record Updates

• Last Update Posted (Estimate): December 20, 2010
• Last Update Submitted That Met QC Criteria: December 17, 2010
• Last Verified: November 1, 2010

More Information

Terms related to this study

• Keywords: caries susceptibility,enamel matrix,candidate genes,mutation
• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Stomatognathic Diseases; Tooth Demineralization; Tooth Diseases; Dental Caries; Disease Susceptibility; Genetic Predisposition to Disease
• Other Study ID Numbers: P061009