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Orodental Manifestations of Rare Diseases

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT02397824
Recruitment Status : Recruiting
First Posted : March 25, 2015
Last Update Posted : November 13, 2020
Information provided by (Responsible Party):
University Hospital, Strasbourg, France

Brief Summary:

OroDental anomalies are one of the phenotypical aspects of at least 900 rare diseases or syndromes affecting by definition less than 1 in 2000 individual within the population (almost 25 million persons in Europe).

They are often described in association with other organs or system malformations, which is understandable, because the same genes and signalling pathways regulate the oral cavity formation or odontogenesis and the development of other organs. The various dental and orofacial anomalies can be classified by type (anomalies of tooth number, shape, size, structures of mineralized tissues, eruption, resorption, tumors; anomalies of oral mucosa; anomalies of tongue…), by signalling pathways and by syndrome families.

These anomalies (for example hypodontia/oligodontia, amelogenesis imperfecta, dentinogenesis imperfecta…) become increasingly identified as diagnostic and predictive traits. Not only is it important to recognise, name appropriately and integrate these dysmorphic clues into the patient dysmorphology analysis but it is essential to synthesize the observations and confront them to existing data about similar orodental anomalies encountered in some of the corresponding mutant mouse models.

Translational approaches in development and medicine, are relevant to gain understanding of molecular events underlying clinical manifestations and to enhance diagnostic accuracy.

The aim of this study is to improve the knowledge, diagnosis and care of oral cavity pathologies encountered in rare diseases via the identification and gathering of national and international patient cohorts and to structure the molecular diagnosis behind these conditions via targeted next-generation sequencing assays. Data collection is implemented on validated accredited tools (databases) complying with the legal regulations about patient data protection and medical record collection. All information is anonymized.

New effective diagnosis and therapeutic tools are being developed.

Condition or disease Intervention/treatment
Rare Disease Orodontal Other: Salivary and blood samples

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Study Type : Observational
Estimated Enrollment : 500 participants
Observational Model: Cohort
Time Perspective: Prospective
Actual Study Start Date : January 2015
Estimated Primary Completion Date : December 2025
Estimated Study Completion Date : December 2025

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Rare Diseases

Primary Outcome Measures :
  1. Dental history [ Time Frame: baseline ]
    enamel defect

  2. Familial history [ Time Frame: baseline ]
    dental defect in family's subject

  3. Familial genotyping [ Time Frame: baseline ]

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Routine care hospitalization patient

Inclusion Criteria:

  • Patient presenting with a rare disease

    • 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 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

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 identifier (NCT number): NCT02397824

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BLOCH-ZUPAN Agnès Recruiting
Strasbourg, Alsace, France, 67091
Contact: Agnès BLOCH-ZUPAN, PU-PH    03 68 85 39 19   
Sponsors and Collaborators
University Hospital, Strasbourg, France
Publications of Results:

Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: University Hospital, Strasbourg, France Identifier: NCT02397824    
Other Study ID Numbers: DC-2012-1677
First Posted: March 25, 2015    Key Record Dates
Last Update Posted: November 13, 2020
Last Verified: November 2020
Additional relevant MeSH terms:
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Rare Diseases
Disease Attributes
Pathologic Processes