ClinicalTrials.gov record NCT07666269

Morphology in Oral Rare Syndromes & Artificial Intelligence for Clinical Diagnosis

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

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

StatusNot yet recruitingThe study has been registered but has not started enrolling. Sites and contacts may not be listed yet.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Healthy volunteersAcceptedPeople who do not have the condition being studied who are allowed to take part. Some studies include both people with the condition and healthy volunteers; others may enrol only healthy volunteers.
Age18 years old and older
SexAll
LocationFrance
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This single‑site study collects 3D intra‑oral scans plus clinical and genetic data from people with rare bone and cartilage disorders and from healthy adult controls. Each participant has one visit for an intra‑oral optical impression; no treatment or follow‑up is given. The study builds a 3D database and tests whether geometric shape analysis can train AI to classify syndromes.

What it is studying. Whether oro‑dental shape features—especially palatal morphology—can be precisely measured from 3D intra‑oral scans and whether those shape signatures can be used to train artificial intelligence to distinguish specific rare bone and cartilage syndromes from healthy controls.

What the researchers hope to learn. To create a structured 3D oral‑shape database for rare bone and cartilage disorders; to quantify palatal and dental morphological differences using geometric morphometrics; to train and internally validate machine‑learning models that classify syndromes; and to inform future diagnostic approaches that could help reduce diagnostic delay.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Other
  • intra-oral 3D optical impression

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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 description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Show the detailed description from the registry

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.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants attend a single study visit. They will have an intra-oral 3D optical impression (a digital scan of the mouth) and provide associated clinical and genetic information. There is no follow-up visit or change to clinical care as part of the study; collected data will be pseudonymized and used for shape analysis and to train and test machine-learning models.

How the study is structured. Observational (non-interventional), non‑randomized, parallel case‑control design with two groups (people with confirmed rare bone/cartilage disorders and healthy adult controls). Each participant attends a single visit for an intra‑oral 3D optical impression and provision of clinical/genetic data. Collected data are pseudonymized and analyzed using geometric morphometrics; the resulting measurements are used to train and validate supervised machine‑learning models. There is no therapeutic intervention or longitudinal follow‑up.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The registry says recruitment has not started. When is it expected to open, and can I register interest now?
  • The listed sites are in France. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

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Important dates

Study start
Sep 1, 2026 (estimated)
Primary completion
Mar 1, 2028 (estimated)
Study completion
Mar 1, 2028 (estimated)
Target enrollment
240 participants (estimated)
Last updated on registry
Jun 24, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
University Hospital, Bordeaux
Collaborators
  • UMR 1026 BioTis
  • UMR 5199 PACEA
  • UMR 5259 LAMCOS

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

Terms used on this page · explanations by MedicalUpdates.ai

cohort
A group of people who share a characteristic, such as a diagnosis, and are studied together. 'Prospective' means they are followed forward from enrolment; 'retrospective' means existing records are reviewed.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
follow-up
The period after treatment or enrolment during which participants are observed or contacted, for example to record side effects or outcomes.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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