Clinical trial NCT02397824: Orodental Manifestations of Rare Diseases
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Rare Disease Orodontal
Lead sponsor: University Hospital, Strasbourg, France
Sponsor class: OTHER
First posted: 2015-03-25
Enrollment: 500
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Routine care hospitalization patient

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.


Eligibility criteria: 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 outcomes:
measure: Dental history
timeFrame: baseline
measure: Familial history
timeFrame: baseline
measure: Familial genotyping
timeFrame: baseline
Secondary outcomes:
Other outcomes:
Locations:
city: Strasbourg
country: France
facility: BLOCH-ZUPAN Agnès
state: Alsace
Study officials:
References:
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citation: Morkmued S, Clauss F, Schuhbaur B, Fraulob V, Mathieu E, Hemmerle J, Clevers H, Koo BK, Dolle P, Bloch-Zupan A, Niederreither K. Deficiency of the SMOC2 matricellular protein impairs bone healing and produces age-dependent bone loss. Sci Rep. 2020 Sep 9;10(1):14817. doi: 10.1038/s41598-020-71749-6.
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