Amelogenesis ImperfectaEXODENTNCT03810859
Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants
A study testing Blood sample in people with Amelogenesis Imperfecta and Dentinogenesis Imperfecta, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
ExoDent specifically aims to discover new genes and new mutations causing isolated amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) and other dentin anomalies. The key point for clinicians is to distinguish between non syndromic and syndromic disorders in order to improve patients guidance and… Read more about this study
- Who is it for?
- Ages 4 years and older
- Conditions the study is for
- Amelogenesis Imperfecta, Dentinogenesis Imperfecta, Dentin Anomalies
- What is being tested?
- Blood sample
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 14 participants
- Where
- 1 siteFrance
- Study dates
- 9 Oct 2019to 15 Sep 2021
- Phase
- Interventional
- Are there results?
- None posted in the registry
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 4 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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
Who cannot join
- absence of positive clinical diagnosis
- Diagnosis of syndromic disease
Trial locations and contacts
1 site in 1 country.
About this study
ExoDent specifically aims to discover new genes and new mutations causing isolated amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) and other dentin anomalies. The key point for clinicians is to distinguish between non syndromic and syndromic disorders in order to improve patients guidance and counseling. To do so, two targeted NGS panel have been designed, one searching for isolated AI and the other for DI. After 18 months, some families remain without any positive results. ExoDent project proposes those negative patients a Whole Exome Sequencing (WES) approach to deeper explore their genetic background.
- Being tested
- Blood sample
- Keywords
- Amelogenesis imperfecta, Dentinogenesis imperfecta, Dentin anomalies, Whole Exome Study
- Medical subject headings
- Amelogenesis Imperfecta, Dentinogenesis Imperfecta
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood sampleBiological
Adults : 7 to 10 mL Childs : 2 to 4 mL
| Study group | Role | What they receive |
|---|---|---|
| All patients | Experimental | Blood sample Receives: Biological: Blood sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
Genome sequencing
Pathogenic variants identification and qualification
Measured: After one day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Jan 2019
- Study start9 Oct 2019
- Primary completion15 Sep 2021
- Study completion15 Sep 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Amelogenesis ImperfectaStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe 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
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 14 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- French rare diseases Healthcare Network, The French Foundation for Rare Diseases, URC-CIC Paris Descartes Necker Cochin
- Responsible party
- Sponsor
- Investigators
- Céline GAUCHER, MD, Principal investigator, APHP
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03810859
- Sponsor's protocol ID
- K180404J
- Other IDs
- 2018-A01250-55
- Acronym
- EXODENT
- Status last verified
- Jul 2026
- First submitted
- 17 Jan 2019
- Last updated
- 20 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants
- ClinicalTrials.gov ID
- NCT03810859
- Acronym / sponsor ID
- EXODENT / K180404J
- Keywords
- Amelogenesis imperfecta, Dentinogenesis imperfecta, Dentin anomalies, Whole Exome Study
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 14 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- French rare diseases Healthcare Network, The French Foundation for Rare Diseases, URC-CIC Paris Descartes Necker Cochin
- Study start
- 9 Oct 2019 (actual)
- Primary completion
- 15 Sep 2021 (actual)
- Study completion
- 15 Sep 2021 (actual)
- First posted
- 22 Jan 2019 (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.
ExoDent specifically aims to discover new genes and new mutations causing isolated amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) and other dentin anomalies. The key point for clinicians is to distinguish between non syndromic and syndromic disorders in order to improve patients guidance and counseling. To do so, two targeted NGS panel have been designed, one searching for isolated AI and the other for DI. After 18 months, some families remain without any positive results. ExoDent project proposes those negative patients a Whole Exome Sequencing (WES) approach to deeper explore their genetic background.
Study design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| All patients | Experimental | Biological: Blood sampleBlood sample |
Who may qualify
- Ages
- 4 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (2 listed)
- 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
Key exclusion criteria (2 listed)
- absence of positive clinical diagnosis
- Diagnosis of syndromic disease
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 |
|---|---|---|
| Blood sampleAdults : 7 to 10 mL Childs : 2 to 4 mL | Biological | All patients |
Primary outcome
Genome sequencing
Time frame: After one day
Pathogenic variants identification and qualification
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Jul 2026.
- Individual participant dataSharing planned: No
Related trials for Amelogenesis Imperfecta
RecruitingObservational study
Oral Health Related Quality of Life of Children With Amelogenesis Imperfecta
Amelogenesis Imperfecta
Not yet recruiting
Renal and Vascular Phenotypic Characterization of Patients With Enamel Renal Syndrome Due to a Pathogenic Variant of the FAM20A Gene and Pathophysiological Study of Ectopic Calcifications
Enamel Renal Syndrome
RecruitingObservational study
Colorimetric, Ultra-structural and Elemental Comparison of Dental Enamel Defects
Amelogenesis Imperfecta, Dental Fluoroses
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. This study is not recruiting at the moment.
Céline GAUCHER, MD principal investigator
APHP
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Blood sample in people with Amelogenesis Imperfecta and Dentinogenesis Imperfecta, run by Assistance Publique - Hôpitaux de Paris 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 2 inclusion and 2 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: finished, as of the sponsor's last update on 20 Jul 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Genome sequencing (time frame: After one day). 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 20 Jul 2026.