Morphology in Oral Rare Syndromes & Artificial Intelligence for Clinical Diagnosis

NCT07666269 | Not Yet Recruiting

• 1 other identifier: CHUBX 2025/102
• Study Type: interventional
• Target: 240
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Osteogenesis Imperfecta; Rare Bone Disorders; Hypophosphatemia; X-Linked; Mucopolysaccharidoses; Tooth Abnormalities; Palate; Deformity; Artificial Intelligence (AI); Machine Learning

Keywords

Rare bone diseases; palatal morphology; geometric morphometrics; 3D intra-oral scan; machine learning; artificial intelligence; diagnostic classification; osteogenesis imperfecta; X-linked hypophosphatemia; mucopolysaccharidosis

Outcome Measures

Primary Outcomes (1)

• 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).

  at inclusion (Day 0)

Study Arms (2)

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.

Other: intra-oral 3D optical impression

Control group

ACTIVE COMPARATOR

Healthy subject consulting at the Department of Oral Medicine at Bordeaux University Hospital

Other: intra-oral 3D optical impression

Interventions

intra-oral 3D optical impression OTHER

Participants will undergo a single visit including an intra-oral 3D optical impression and collection of clinical/genetic data

Case group; Control group

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• University Hospital, Bordeaux: lead
• UMR 1026 BioTis: collaborator
• UMR 5199 PACEA: collaborator
• UMR 5259 LAMCOS: collaborator

Study Sites (1)

CHU de Bordeaux

Bordeaux, France

Location

MeSH Terms

Conditions

Osteogenesis Imperfecta; Hypophosphatemia; Mucopolysaccharidoses; Tooth Abnormalities; Congenital Abnormalities; Familial Hypophosphatemic Rickets

Condition Hierarchy (Ancestors)

Osteochondrodysplasias; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Collagen Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Phosphorus Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Mucinoses; Stomatognathic System Abnormalities; Stomatognathic Diseases; Tooth Diseases; Rickets, Hypophosphatemic; Rickets; Bone Diseases, Metabolic; Hypophosphatemia, Familial; Renal Tubular Transport, Inborn Errors; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Metal Metabolism, Inborn Errors; Calcium Metabolism Disorders; Vitamin D Deficiency; Avitaminosis; Deficiency Diseases; Malnutrition; Nutrition Disorders

Central Study Contacts

Olivia KEROUREDAN, Dr

CONTACT

05 47 30 43 01; olivia.kerouredan@chu-bordeaux.fr

Anaïs CAVARE, Dr

CONTACT

05 47 30 43 01

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: Prospective, observational, monocentric, national case-control study

Study Record Dates

• First Submitted: May 6, 2026
• First Posted: June 24, 2026
• Study Start (Estimated): September 1, 2026
• Primary Completion (Estimated): March 1, 2028
• Study Completion (Estimated): March 1, 2028
• Last Updated: June 24, 2026

Record last verified: 2026-06

Locations

FR (1)