Orodental Manifestations of Rare Diseases

NCT02397824 · tracked via the Priya Life Science France tracker

Sponsor

University Hospital, Strasbourg, France

Phase

Observational

Started

2015-01

Last updated

2026-05-15

Condition(s) studied

Rare Disease Orodontal

Investigational drug(s) / intervention(s)

Salivary and blood samples

Study 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.

Eligibility

Sex

ALL

Min age

—

Max age

—

Healthy volunteers

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

Primary outcome measure(s)

Dental history — baseline
enamel defect
Familial history — baseline
dental defect in family's subject
Familial genotyping — baseline

Trial sites (1)

Facility	City	Region	Status
BLOCH-ZUPAN Agnès	Strasbourg	Alsace	Recruiting

More University Hospital, Strasbourg, France trials in France

The Interest of Systematic Screening for Dengue, Chikungunya, and Zika, in Malaria-negative Return Travelers Active, not recruiting

Dynamical Electrophysiology and Neuropathology in Lewy's Bodies Disease Recruiting

Impact of Perioperative Organ Resuscitation of Brain-dead Deceased Organ Donor on Kidney Graft Function in the Recipient Recruiting

Description of a Retrospective Cohort of Patients With Transthyretin Cardiac Amyloidosis (ATTR-CA) in Internal Medicine Recruiting

Study of the Care Pathway of Patients Admitted to the Palliative Care Unit of Strasbourg University Hospital From Their Home in 2025 Recruiting

Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT02397824 on ClinicalTrials.gov ↗ ← All trials in France