An interventional study of intra-oral 3D optical impression in Osteogenesis Imperfecta, Rare Bone Disorders and Hypophosphatemia, sponsored by University Hospital, Bordeaux. Not yet recruiting at 1 site in France. Open to participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-06-24.
Sponsored by University Hospital, Bordeaux · Not applicable, Interventional, and Basic science
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.
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.
84 studies on the registry are indexed under Osteogenesis Imperfecta; 20 are open to participants now.
This study's planned enrollment of 240 is above the median of 28 across 60 interventional studies indexed under Osteogenesis Imperfecta.
Browse Osteogenesis Imperfecta studies →University Hospital, Bordeaux is the lead sponsor of 806 studies on the registry; 197 are open to participants now.
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Exclusion Criteria:
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
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
Discriminative ability of geometric morphometric analysis
Discriminative ability of geometric morphometric analysis to differentiate patient subgroups and healthy controls (procMANOVA on Procrustes coordinates, pairwise comparison of Procrustes distance).
Time frame: at inclusion (Day 0)
Start is estimated for Sep 2026; primary completion for Mar 2028, 18 months later.
Of 17 interventional studies with no phase under Osteogenesis Imperfecta, half reached primary completion within 22 months of starting (the median), counting those still running; a quarter within 15 and three quarters within 35. This study's planned 18 months is below that.
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This study is not yet recruiting, as verified in Jun 2026. You cannot join it, but the record below documents what was studied.
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