Rare Disease Orodontal Clinical Trial
| NCT number | NCT02397824 |
| Other study ID # | DC-2012-1677 |
| Secondary ID | |
| Status | Recruiting |
| Phase | |
| First received | |
| Last updated | |
| Start date | January 2015 |
| Est. completion date | December 2025 |
| Verified date | November 2020 |
| Source | University Hospital, Strasbourg, France |
| Contact | n/a |
| Is FDA regulated | No |
| Health authority | |
| Study type | Observational |
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.
| Status | Recruiting |
| Enrollment | 500 |
| Est. completion date | December 2025 |
| Est. primary completion date | December 2025 |
| Accepts healthy volunteers | No |
| Gender | All |
| Age group | N/A and older |
| Eligibility | 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 |
| Country | Name | City | State |
|---|---|---|---|
| France | BLOCH-ZUPAN Agnès | Strasbourg | Alsace |
| Lead Sponsor | Collaborator |
|---|---|
| University Hospital, Strasbourg, France |
France,
Gasse B, Prasad M, Delgado S, Huckert M, Kawczynski M, Garret-Bernardin A, Lopez-Cazaux S, Bailleul-Forestier I, Manière MC, Stoetzel C, Bloch-Zupan A, Sire JY. Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previousl — View Citation
Laugel-Haushalter V, Bär S, Schaefer E, Stoetzel C, Geoffroy V, Alembik Y, Kharouf N, Huckert M, Hamm P, Hemmerlé J, Manière MC, Friant S, Dollfus H, Bloch-Zupan A. A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal — View Citation
Laugel-Haushalter V, Morkmued S, Stoetzel C, Geoffroy V, Muller J, Boland A, Deleuze JF, Chennen K, Pitiphat W, Dollfus H, Niederreither K, Bloch-Zupan A, Pungchanchaikul P. Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cu — View Citation
Morkmued S, Clauss F, Schuhbaur B, Fraulob V, Mathieu E, Hemmerlé J, Clevers H, Koo BK, Dollé 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;1 — View Citation
Prasad MK, Laouina S, El Alloussi M, Dollfus H, Bloch-Zupan A. Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes. J Dent Res. 2016 Dec;95(13):1457-1463. Epub 2016 Aug 24. — View Citation
Rey T, Tarabeux J, Gerard B, Delbarre M, Le Béchec A, Stoetzel C, Prasad M, Laugel-Haushalter V, Kawczynski M, Muller J, Chelly J, Dollfus H, Manière MC, Bloch-Zupan A. Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Geneti — View Citation
Schossig A, Bloch-Zupan A, Lussi A, Wolf NI, Raskin S, Cohen M, Giuliano F, Jurgens J, Krabichler B, Koolen DA, de Macena Sobreira NL, Maurer E, Muller-Bolla M, Penzien J, Zschocke J, Kapferer-Seebacher I. SLC13A5 is the second gene associated with Kohlsc — View Citation
Tardieu C, Jung S, Niederreither K, Prasad M, Hadj-Rabia S, Philip N, Mallet A, Consolino E, Sfeir E, Noueiri B, Chassaing N, Dollfus H, Manière MC, Bloch-Zupan A, Clauss F. Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations — View Citation
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | Dental history | enamel defect | baseline | |
| Primary | Familial history | dental defect in family's subject | baseline | |
| Primary | Familial genotyping | baseline |