Osteogenesis ImperfectaMOSAICNCT07666269
Morphology in Oral Rare Syndromes & Artificial Intelligence for Clinical Diagnosis
A study testing intra-oral 3D optical impression in people with Osteogenesis Imperfecta and Rare Bone Disorders, run by University Hospital, Bordeaux at 1 site in France.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Osteogenesis Imperfecta, Rare Bone Disorders, Hypophosphatemia
- What is being tested?
- intra-oral 3D optical impression
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 240 participants
- Where
- 1 siteFrance
- Study dates
- 1 Sep 2026to 1 Mar 2028
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Anaïs CAVARE, Dr contact
France1 site
CHU de Bordeaux
Bordeaux
Olivia KEROUREDAN, Dr, 05 47 30 43 01 ext. +33, olivia.kerouredan@chu-bordeaux.fr
Anaïs CAVARE, Dr, 05 47 30 43 01 ext. +33, anais.cavare@chu-bordeaux.fr
About this study
Official title: 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.
Read the 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.
- Conditions
- Osteogenesis Imperfecta, Rare Bone Disorders, Hypophosphatemia, X-Linked, Mucopolysaccharidoses, Tooth Abnormalities
- Being tested
- intra-oral 3D optical impression
- Keywords
- Rare bone diseases, palatal morphology, geometric morphometrics, 3D intra-oral scan, machine learning, artificial intelligence, diagnostic classification, osteogenesis imperfecta, X-linked hypophosphatemia, mucopolysaccharidosis
- Medical subject headings
- Osteogenesis Imperfecta, Hypophosphatemia, Mucopolysaccharidoses, Tooth Abnormalities, Congenital Abnormalities, Familial Hypophosphatemic Rickets
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
intra-oral 3D optical impressionOther
Participants will undergo a single visit including an intra-oral 3D optical impression and collection of clinical/genetic data
| Study group | Role | What they receive |
|---|---|---|
| Case group | Experimental | 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. Receives: Other: intra-oral 3D optical impression |
| Control group | Active comparator | Healthy subject consulting at the Department of Oral Medicine at Bordeaux University Hospital Receives: Other: intra-oral 3D optical impression |
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: at inclusion (Day 0)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Jun 2026
- Study start1 Sep 2026 (estimated)
- Primary completion1 Mar 2028 (estimated)
- Study completion1 Mar 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Osteogenesis ImperfectaStudies of the same condition, open and under way.
- More trials run by University Hospital, BordeauxThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Model description
- Prospective, observational, monocentric, national case-control study
- Masking
- None (open label)
- Enrolment
- 240 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Bordeaux
- Sponsor type
- University, hospital or other
- Collaborators
- UMR 1026 BioTis, UMR 5199 PACEA, UMR 5259 LAMCOS
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07666269
- Sponsor's protocol ID
- CHUBX 2025/102
- Acronym
- MOSAIC
- Status last verified
- Jun 2026
- First submitted
- 6 May 2026
- Last updated
- 24 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Geometric Morphometric Characterization of Oro-Dental Anomalies in Rare Bone and Cartilage Diseases From 3D Digital Data (MOSAIC)
- ClinicalTrials.gov ID
- NCT07666269
- Acronym / sponsor ID
- MOSAIC / CHUBX 2025/102
- Conditions
- Osteogenesis Imperfecta, Rare Bone Disorders, Hypophosphatemia, X-Linked, Mucopolysaccharidoses, Tooth Abnormalities
- Keywords
- Rare bone diseases, palatal morphology, geometric morphometrics, 3D intra-oral scan, machine learning, artificial intelligence, diagnostic classification, osteogenesis imperfecta
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 240 participants (estimated)
- Lead sponsor
- University Hospital, BordeauxUniversity, hospital or other
- Collaborators
- UMR 1026 BioTis, UMR 5199 PACEA, UMR 5259 LAMCOS
- Study start
- 1 Sep 2026 (estimated)
- Primary completion
- 1 Mar 2028 (estimated)
- Study completion
- 1 Mar 2028 (estimated)
- First posted
- 24 Jun 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
- Model description
- Prospective, observational, monocentric, national case-control study
| Arm | Type | Receives |
|---|---|---|
| Case group | Experimental | Other: intra-oral 3D optical impressionPatient 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. |
| Control group | Active comparator | Other: intra-oral 3D optical impressionHealthy subject consulting at the Department of Oral Medicine at Bordeaux University Hospital |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| intra-oral 3D optical impressionParticipants will undergo a single visit including an intra-oral 3D optical impression and collection of clinical/genetic data | Other | Case group, Control group |
Primary outcome
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).
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Jun 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Anaïs CAVARE, Dr contact
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing intra-oral 3D optical impression in people with Osteogenesis Imperfecta and Rare Bone Disorders, run by University Hospital, Bordeaux at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 24 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Olivia KEROUREDAN, Dr (05 47 30 43 01 ext. +33, olivia.kerouredan@chu-bordeaux.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Discriminative ability of geometric morphometric analysis (time frame: at inclusion (Day 0)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Jun 2026; AzTrials last refreshed its copy on 7 Nov 2026.