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Hunting for hidden genes behind tooth defects

NCT ID NCT03810859

Knowledge-focused Sponsor: Assistance Publique - Hôpitaux de Paris Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jul 20, 2026 · Last updated Jul 21, 2026 · Updated 1 time

Summary

This study aims to discover new genes and mutations that cause isolated forms of amelogenesis imperfecta and dentinogenesis imperfecta—inherited conditions that affect tooth enamel and dentin. Researchers are using whole exome sequencing on participants who have these tooth disorders but no other health issues, and who previously tested negative on standard genetic panels. The goal is to improve diagnosis and help doctors distinguish between isolated tooth problems and syndromes that affect other parts of the body.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this could identify new genetic causes of isolated tooth defects, leading to better diagnostic tests and more precise genetic counseling for affected families.
What could go wrong
This is a small, early-stage genetic discovery study. It may not find new genes, and any findings would need further validation before they can be used in clinical practice.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Phase

Not a phased trial

Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.

Participants

14 people

The number who actually took part.

Started

Oct 2019

Finished

Sep 2021

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

4 years and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * clinical diagnosis of amelogenesis imperfecta or dentinogenesis imerfecta or other dentin anomaly with no other signs or symptoms ( familial or isolated) * negative results after targeted NGS strategy for molecular diagnosis Exclusion Criteria: * absence of positive clinical diagnosis * Diagnosis of syndromic disease

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Conditions

The condition(s) this trial relates to.

amelogenesis imperfecta dentin dysplasia dentinogenesis imperfecta

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Amelogenesis imperfecta Dentin anomalies Dentinogenesis imperfecta

Contacts and locations

Locations

  • Hospital Cochin

    Paris, France, 75014, France

More trials for these conditions

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