Morphology in Oral Rare Syndromes & Artificial Intelligence for Clinical Diagnosis (MOSAIC)

June 18, 2026 updated by: University Hospital, Bordeaux

Geometric Morphometric Characterization of Oro-Dental Anomalies in Rare Bone and Cartilage Diseases From 3D Digital Data (MOSAIC)

MOSAIC aims to determine whether oro-dental morphological anomalies, particularly palatal morphology, associated with rare bone and cartilage diseases can be precisely characterized using 3D digital models analysed through geometric morphometrics. The study will also evaluate whether these morphological signatures can train an artificial intelligence (AI) algorithm to classify syndromes. A prospective monocentric case-control cohort will be constituted, including 3D intra-oral scans and associated clinical data. The final goal is to improve diagnostic accuracy and reduce diagnostic delay in rare bone disorders.

Study Overview

Status

Not yet recruiting

Conditions

Intervention / Treatment

Detailed Description

Rare bone and cartilage diseases are genetically heterogeneous conditions in which oro-dental anomalies are frequent yet insufficiently characterized, partly due to subjective clinical assessment and the absence of quantitative tools. Palatal morphology and tooth number/shape anomalies may represent key phenotypic markers but remain underused in diagnosis. Advances in 3D intra-oral scanning and geometric morphometrics now allow precise, reproducible shape analysis of complex anatomical structures. In parallel, artificial intelligence has shown promising results in classifying craniofacial phenotypes from 2D images. However, no study has yet combined 3D digital oral data, geometric morphometrics, and machine learning for rare bone disorders. MOSAIC addresses this gap by building the first structured 3D database dedicated to these conditions and developing a classification model capable of identifying syndrome-specific morphological patterns.

Participants will undergo a single visit including an intra-oral 3D optical impression and collection of clinical/genetic data. Geometric morphometric analysis (Generalized Procrustes Analysis, Principal Component Analysis, ProcMANOVA/MANCOVA, Pairwise comparison) will be performed on palatal landmarks configuration. Morphometric outputs will feed supervised machine-learning models (Random Forest, SVM, XGBoost) trained and validated for syndrome classification.

Each participant will take part in one single visit (T0) without longitudinal follow-up. Data will then be pseudonymized, processed, and analysed in successive workpackages: (1) database constitution, (2) geometric morphometric analysis, (3) AI model training and validation, (4) internal independent testing. Further external validation is expected through a dedicated follow-up protocol using an independent external dataset. No clinical intervention or therapeutic modification is involved.

Study Type

Interventional

Enrollment (Estimated)

240

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

  • Name: Anaïs CAVARE, Dr
  • Phone Number: +33 05 47 30 43 01

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Description

Inclusion Criteria:

  • For cases: Diagnosis of a rare bone and cartilage disorder confirmed by the Rare Disease Competence Center for Constitutional Bone Disorders (MOC) or Calcium and Phosphate Metabolism Disorders (CaP), genetically and/or clinically.
  • Ability to undergo a 3D intra-oral scan;
  • Ability of the participant to understand the information notice provided regarding the use of their medical data and 3D digital models for research purposes, and to express informed non-objection to participation in the research.
  • For controls: healthy adults recruited in the Dental Medicine Department.

Exclusion Criteria:

  • History of major orthodontic/orthognathic treatment;
  • Craniofacial conditions unrelated to the studied diseases (e.g., cleft palate, non-target craniofacial syndromes);
  • Impossibility to obtain a 3D optical impression;
  • Refusal or inability of the participant to understand the information notice and/or to express informed non-objection to participation in the research.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Basic Science
  • Allocation: Non-Randomized
  • Interventional Model: Parallel Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Case group
Patient with diagnosis of a rare bone and cartilage disorder confirmed by the Rare Disease Competence Center for Constitutional Bone Disorders or Calcium and Phosphate Metabolism Disorders, genetically and/or clinically.
Other: intra-oral 3D optical impression
Participants will undergo a single visit including an intra-oral 3D optical impression and collection of clinical/genetic data
Active Comparator: Control group
Healthy subject consulting at the Department of Oral Medicine at Bordeaux University Hospital
Other: intra-oral 3D optical impression
Participants will undergo a single visit including an intra-oral 3D optical impression and collection of clinical/genetic data

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Discriminative ability of geometric morphometric analysis
Time Frame: at inclusion (Day 0)
Discriminative ability of geometric morphometric analysis to differentiate patient subgroups and healthy controls (procMANOVA on Procrustes coordinates, pairwise comparison of Procrustes distance).
at inclusion (Day 0)

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Bordeaux

Collaborators

UMR 1026 BioTis
UMR 5199 PACEA
UMR 5259 LAMCOS

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

September 1, 2026

Primary Completion (Estimated)

March 1, 2028

Study Completion (Estimated)

March 1, 2028

Study Registration Dates

First Submitted

May 6, 2026

First Submitted That Met QC Criteria

June 18, 2026

First Posted (Actual)

June 24, 2026

Study Record Updates

Last Update Posted (Actual)

June 24, 2026

Last Update Submitted That Met QC Criteria

June 18, 2026

Last Verified

June 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • CHUBX 2025/102

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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