Orodental Manifestations of Rare Diseases


Lead Sponsor: University Hospital, Strasbourg, France

Source 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.

Overall Status Recruiting
Start Date January 2015
Primary Completion Date December 2020
Study Type Observational
Primary Outcome
Measure Time Frame
Dental history baseline
Familial history baseline
Familial genotyping baseline
Enrollment 200

Intervention Type: Other

Intervention Name: Salivary and blood samples


Sampling Method: Probability Sample


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

Gender: All

Minimum Age: N/A

Maximum Age: N/A

Healthy Volunteers: No

Facility: Status: Contact: BLOCH-ZUPAN Agnès Agnès BLOCH-ZUPAN, PU-PH 03 68 85 39 19 [email protected]
Location Countries


Verification Date

December 2015

Responsible Party

Type: Sponsor

Has Expanded Access No
Condition Browse
Study Design Info

Observational Model: Cohort

Time Perspective: Prospective

Source: ClinicalTrials.gov