Associations Between Dental Anomalies and Ocular, Cutaneous and Skin Appendages Features

NCT06950619 | Not Yet Recruiting

• 1 other identifier: 2025-DENTALOCULARANOMALIES
• Study Type: interventional
• Target: 5
• Locations: 1 country
• Sites: 2

Brief Summary

Considering recent literature, it is possible to hypothesise a link between dental anomalies and ocular and/or cutaneous findings, given the existence of shared genetic and developmental mechanisms between these two anatomical areas. Both the eye and teeth develop from ectodermal and mesenchymal tissues, involving common molecular signalling pathways such as Wnt, BMP and PAX. Genetic variants affecting these pathways can therefore determine combined phenotypes, such as congenital cataracts associated with dental agenesis or enamel malformations. Some rare genetic syndromes, such as Nance-Horan syndrome and oculofacio-cardio-dental (OFCD) syndrome, support the hypothesis of a systemic correlation between odontogenesis and ocular development. In a previous study on congenital cataracts, nearly 10% of probands with variants in the BCOR, CWC27, IFIH1, NHS, and PAX6 genes had various dental abnormalities. Therefore, exploring the possible connection between eye and dental diseases may not only facilitate early and multidisciplinary diagnosis, but also open up new perspectives in genetic research and the development of personalised therapeutic approaches, for which whole genome sequencing (WGS) appears to be the first choice for investigating non-syndromic forms. Therefore, the current clinical study aims to identify variants in genes common to eye diseases and dental anomalies (agenesis, supernumerary teeth, Hutchinson's teeth, mulberry molars) in orthodontic patients over the age of 12 with dental anomalies who are about to begin orthodontic treatment or who are attending routine check-ups at the Orthodontics and Paediatric Dentistry Unit, Department of Clinical, Surgical, Diagnostic and Paediatrics Sciences at the University of Pavia who have a family history of ocular and cutaneous manifestations or presenting at the same time dental, ocular and/or cutaneous anomalies. Patients who are eligible will be invited to participate in the study. After signing the informed consent form, the Case Report Form will be completed to collect the data of interest for the study; previous medical reports will be asked to patients or parents/legal guardians in case of minors to ascertain ocular and cutaneous pathologies; a buccal swab will be taken to collect a DNA sample that will be analysed with Next Generation Sequencing. In addition, cephalometric evaluations will be performed if lateral teleradiographs will be available, if already performed in accordance with Good Clinical Practice for the purposes of orthodontic assessment of patients.

Conditions

Congenital Cataract; Tooth Abnormalities; Ocular Pathologies

Outcome Measures

Primary Outcomes (1)

• Presence of variants in common genes for dental anomalies, ocular diseases and cutaneous/skin appendages features

  Whole Genome Sequencing will be used to find pathogenetic variants

  Baseline

Secondary Outcomes (9)

• SNA angle

  Baseline

• SNB angle

  Baseline

• ANB angle

  Baseline

• SN plane

  Baseline

• ANS-PNS plane

  Baseline

Study Arms (1)

Orthodontic patients

EXPERIMENTAL

Patients fulfilling the inclusion criteria will undergo blood sampling

Genetic: Whole Genome Sequencing; Other: Cephalometric tracing

Interventions

Whole Genome Sequencing GENETIC

Genetic testing will be performed to find variants in genes involving congenital cataract and/or ocular diseases (keratitis, keratoconus, corneal dystrophies, ectopia lentis, glaucoma, retinitis pigmentosa, coloboma and aniridia) and dental anomalies (tooth agenesis, supernumerary teeth, Hutchinson teeth, mulberry molars). Cutaneous appendage anomalies will be also evaluated in clinical history for ascertaining ectodermal diplasia.

Orthodontic patients

Cephalometric tracing OTHER

Cephalometric tracing will be performed on lateral cephalometric radiographs if present and not taken on purpose for the study

Orthodontic patients

Eligibility Criteria

• Age: 12 Years - 70 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Supernumerary teeth
• oligodontia
• screw driver sharped incisors
• Hutchinson's teeth
• mulberry molars
• tooth agenesis
• congenital cataract, keratitis, keratoconus, corneal dystrophies, ectopia lentis, glaucoma, retinitis pigmentosa, coloboma and aniridia in probands or relatives
• skin appendages anomalies in probands or relatives

You may not qualify if:

• Previous orthodontic, restorative, endodontic, prosthetic and surgical treatment that could alter tooth morphology and position

Sponsors & Collaborators

• University of Pavia: lead

Study Sites (2)

Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia

Pavia, Lombardy, 27100, Italy

Location

Unit of Orthodontics and Pediatric Dentistry - Section of Dentistry - Department of Clinical, Surgical, Diagnostic and Pediatrics - University of Pavia

Pavia, Lombardy, 27100, Italy

Location

Related Publications (1)

• Lecca M, Mauri L, Gana S, Del Longo A, Morelli F, Nicotra R, Plumari M, Galli J, Sirchia F, Valente EM, Cavallari U, Mazza M, Signorini S, Errichiello E. Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract. Clin Genet. 2024 Oct;106(4):403-412. doi: 10.1111/cge.14568. Epub 2024 Jun 5.

  PMID: 38840272 BACKGROUND

MeSH Terms

Conditions

Tooth Abnormalities

Interventions

Whole Genome Sequencing

Condition Hierarchy (Ancestors)

Stomatognathic System Abnormalities; Stomatognathic Diseases; Tooth Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Sequence Analysis, DNA; Sequence Analysis; Genetic Techniques; Investigative Techniques

Study Officials

• Andrea Scribante

  University of Pavia

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Andrea Scribante

CONTACT

+39 0382516223; andrea.scribante@unipv.it

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor, Investigator

Study Record Dates

• First Submitted: April 21, 2025
• First Posted: April 30, 2025
• Study Start: February 1, 2026
• Primary Completion (Estimated): April 1, 2027
• Study Completion (Estimated): April 1, 2027
• Last Updated: November 19, 2025

Record last verified: 2025-11

Data Sharing

• IPD Sharing: Will not share

Locations

IT (2)