Exploring dental issues related to rare diseases

Orodental Manifestations of Rare Diseases

Observational University Hospital, Strasbourg, France · NCT02397824

This study looks at dental problems linked to rare diseases to see how they relate to genetics and to help improve diagnosis and treatment for affected patients.

Quick facts

Study typeObservational
Enrollment500 (estimated)
SexAll
SponsorUniversity Hospital, Strasbourg, France Academic / other
Locations1 site (Strasbourg, Alsace)
Trial IDNCT02397824 on ClinicalTrials.gov

What this trial studies

This observational study focuses on the orodental manifestations associated with rare diseases, which affect less than 1 in 2000 individuals. It aims to classify various dental and orofacial anomalies, such as tooth number and shape abnormalities, and their connections to genetic and signaling pathways. The study involves collecting salivary and blood samples from patients diagnosed with rare diseases to better understand these anomalies and their diagnostic significance. The research will help in identifying and integrating these dysmorphic traits into clinical practice.

Who should consider this trial

Good fit: Ideal candidates include children and adults diagnosed with a rare disease who are either new patients or already known at the center.

Not a fit: Patients without a clinical diagnosis or those lacking necessary dental documentation will not benefit from this study.

Why it matters

Potential benefit: If successful, this study could enhance the understanding and diagnosis of dental anomalies in patients with rare diseases.

How similar studies have performed: While the study addresses a niche area, similar approaches in understanding genetic links to dental anomalies have shown promise, indicating potential for success.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria:

* Patient presenting with a rare disease

  * New patient or patient already known in the center
  * Child (in his primary dentition) or adult
  * Man or woman
  * Having signed a consent form or accepted to participate to the study
  * Patient affiliated to social security
  * Validation of the inclusion by the principal investigator looking at the patient file

Exclusion Criteria:

* Patient whose clinical diagnostic is not possible

  * Patient whose clinical file does not contain teeth photos
  * Patient who has not signed a consent form and accepted to participate to the study
  * Patient who is not affiliated to social security.
  * Non validation of the inclusion by the principal investigator looking at the patient file

Where this trial is running

Strasbourg, Alsace

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Rare Disease Orodontal
Last reviewed 2026-06-15 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.