Amelogenesis ImperfectaNCT01746121
Amelogenesis Imperfecta
An observational study of Amelogenesis Imperfecta, run by University Hospital, Strasbourg, France at 1 site in France.
Trial summary
Amelogenesis Imperfecta (AI) are a heterogeneous group of rare genetic diseases transmitted according to various mode of inheritance (X-linked, autosomal dominant, autosomal recessive) affecting the formation/mineralization of tooth enamel. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Amelogenesis Imperfecta
- What is being tested?
- Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth.
- How many people
- 600 participants
- Where
- 1 siteFrance
- Study dates
- Nov 2009to Jan 2016
- Phase
- Observational
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The recruitment of patients comes from several sources. A first cohort of 40 families is already followed by the reference center of Strasbourg. The reference center for rare diseases dental manifestations of Strasbourg recruiting patients at regional, interregional, national and international scale.
Who may be able to join
- Patient presenting with AI
- 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
Who cannot join
- Patient with acquired enamel defects
- 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
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Clinical and Molecular Study of Amelogenesis Imperfecta
Amelogenesis Imperfecta (AI) are a heterogeneous group of rare genetic diseases transmitted according to various mode of inheritance (X-linked, autosomal dominant, autosomal recessive) affecting the formation/mineralization of tooth enamel. These diseases exist in isolation with clinical manifestations limited to the oral cavity or may be associated to other symptoms in syndromes. Many different genes (AMELX, ENAM, ENAMELYSIN or MMP20, KLK4, DLX3, FAM83H, FAM20A WDR72…) coding for enamel matrix proteins, enamel matrix degrading proteins, proteins involved in hydroxyapatite formation and growth and mineralization processes have been discovered responsible for the clinical phenotypes (hypoplastic, hypomineralized, hypomature) encountered in AI.
Genes involved in enamel formation but not yet identified in association with any form of AI include: AMELY, AMELOBLASTIN, TUFTELIN, AMELOTIN, A Pin protein, ODAM (Odontogenic ameloblast associated).
In this research protocol the investigators explore the phenotype including the enamel ultrastructure and the genotype of a cohort of patients presenting AI.
- Conditions
- Amelogenesis Imperfecta
- Being tested
- Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth.
- Medical subject headings
- Amelogenesis Imperfecta
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth.Genetic
| Study group | Role | What they receive |
|---|---|---|
| Amelogenesis Imperfecta | Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth Receives: Genetic: Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth. | |
| healthy family members | Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth Receives: Genetic: Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Natural history of Amelogenesis Imperfecta
Familial, medical, dental history
Measured: at day of enrollment
Secondary outcomes (1)
Phenotype of Amelogenesis Imperfecta
Clinical and radiographic examination Type of enamel defects Associated dental or craniofacial anomalies
Measured: at day of enrollment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Dec 2012 (estimated)
- Study startNov 2009
- Primary completionMar 2013
- Study completionJan 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Amelogenesis ImperfectaStudies of the same condition, open and under way.
- 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
- Observational
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Enrolment
- 600 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Strasbourg, France
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Bloch-Zupan Agnes, DChD, PhD, HDR, PU-PH, Principal investigator, University Hospital of Strasbourg
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01746121
- Sponsor's protocol ID
- 4266
- Status last verified
- Feb 2013
- First submitted
- 22 Oct 2012
- Last updated
- 11 Jul 2018
- Results posted
- No
- Data monitoring committee
- No
Publications
Bloch-Zupan A, Rey T, Jimenez-Armijo A, Kawczynski M, Kharouf N; O-Rare consortium; Dure-Molla M, Noirrit E, Hernandez M, Joseph-Beaudin C, Lopez S, Tardieu C, Thivichon-Prince B; ERN Cranio Consortium; Dostalova T, Macek M Jr; International Consortium; Alloussi ME, Qebibo L, Morkmued S, Pungchanchaikul P, Orellana BU, Maniere MC, Gerard B, Bugueno IM, Laugel-Haushalter V. Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification. Front Physiol. 2023 May 9;14:1130175. doi: 10.3389/fphys.2023.1130175. eCollection 2023.
PubMed 37228816Prasad MK, Geoffroy V, Vicaire S, Jost B, Dumas M, Le Gras S, Switala M, Gasse B, Laugel-Haushalter V, Paschaki M, Leheup B, Droz D, Dalstein A, Loing A, Grollemund B, Muller-Bolla M, Lopez-Cazaux S, Minoux M, Jung S, Obry F, Vogt V, Davideau JL, Davit-Beal T, Kaiser AS, Moog U, Richard B, Morrier JJ, Duprez JP, Odent S, Bailleul-Forestier I, Rousset MM, Merametdijan L, Toutain A, Joseph C, Giuliano F, Dahlet JC, Courval A, El Alloussi M, Laouina S, Soskin S, Guffon N, Dieux A, Doray B, Feierabend S, Ginglinger E, Fournier B, de la Dure Molla M, Alembik Y, Tardieu C, Clauss F, Berdal A, Stoetzel C, Maniere MC, Dollfus H, Bloch-Zupan A. A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. J Med Genet. 2016 Feb;53(2):98-110. doi: 10.1136/jmedgenet-2015-103302. Epub 2015 Oct 26.
PubMed 26502894
Study at a glance
From the registry record, last updated by the sponsor on 11 Jul 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Molecular Study of Amelogenesis Imperfecta
- ClinicalTrials.gov ID
- NCT01746121
- Acronym / sponsor ID
- 4266
- Conditions
- Amelogenesis Imperfecta
- Study type
- Observational
- Recruitment status
- Terminated
- Enrolment
- 600 participants (actual)
- Lead sponsor
- University Hospital, Strasbourg, FranceUniversity, hospital or other
- Study start
- Nov 2009 (actual)
- Primary completion
- Mar 2013 (actual)
- Study completion
- Jan 2016 (actual)
- First posted
- 10 Dec 2012 (estimated)
- 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.
Amelogenesis Imperfecta (AI) are a heterogeneous group of rare genetic diseases transmitted according to various mode of inheritance (X-linked, autosomal dominant, autosomal recessive) affecting the formation/mineralization of tooth enamel. These diseases exist in isolation with clinical manifestations limited to the oral cavity or may be associated to other symptoms in syndromes. Many different genes (AMELX, ENAM, ENAMELYSIN or MMP20, KLK4, DLX3, FAM83H, FAM20A WDR72…) coding for enamel matrix proteins, enamel matrix degrading proteins, proteins involved in hydroxyapatite formation and growth and mineralization processes have been discovered responsible for the clinical phenotypes (hypoplastic, hypomineralized, hypomature) encountered in AI.
Genes involved in enamel formation but not yet identified in association with any form of AI include: AMELY, AMELOBLASTIN, TUFTELIN, AMELOTIN, A Pin protein, ODAM (Odontogenic ameloblast associated).
In this research protocol the investigators explore the phenotype including the enamel ultrastructure and the genotype of a cohort of patients presenting AI.
Study design
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Amelogenesis Imperfecta | – | Genetic: Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth.Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth |
| healthy family members | – | Genetic: Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth.Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The recruitment of patients comes from several sources. A first cohort of 40 families is already followed by the reference center of Strasbourg. The reference center for rare diseases dental manifestations of Strasbourg recruiting patients at regional, interregional, national and international scale.
Key inclusion criteria (7 listed)
- Patient presenting with AI
- 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
Key exclusion criteria (6 listed)
- Patient with acquired enamel defects
- 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.
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 |
|---|---|---|
| Salivary and blood sampling, as part of routine care. Collection of exfoliated teeth. | Genetic | Amelogenesis Imperfecta, healthy family members |
Primary outcome
Natural history of Amelogenesis Imperfecta
Time frame: at day of enrollment
Familial, medical, dental history
1 secondary outcome
Phenotype of Amelogenesis Imperfecta
Time frame: at day of enrollment
Results and safety
The study was stopped early. Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Jul 2018.
- Derived from this study: PubMed 37228816Bloch-Zupan A, Rey T, Jimenez-Armijo A, Kawczynski M, Kharouf N; O-Rare consortium; Dure-Molla M, Noirrit E, Hernandez M, Joseph-Beaudin C, Lopez S, Tardieu C, Thivichon-Prince B; ERN Cranio Consortium; Dostalova T, Macek M Jr; International Consortium; Alloussi ME, Qebibo L, Morkmued S, Pungchanchaikul P, Orellana BU, Maniere MC, Gerard B, Bugueno IM, Laugel-Haushalter V. Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification. Front Physiol. 2023 May 9;14:1130175. doi: 10.3389/fphys.2023.1130175. eCollection 2023.
- Derived from this study: PubMed 26502894Prasad MK, Geoffroy V, Vicaire S, Jost B, Dumas M, Le Gras S, Switala M, Gasse B, Laugel-Haushalter V, Paschaki M, Leheup B, Droz D, Dalstein A, Loing A, Grollemund B, Muller-Bolla M, Lopez-Cazaux S, Minoux M, Jung S, Obry F, Vogt V, Davideau JL, Davit-Beal T, Kaiser AS, Moog U, Richard B, Morrier JJ, Duprez JP, Odent S, Bailleul-Forestier I, Rousset MM, Merametdijan L, Toutain A, Joseph C, Giuliano F, Dahlet JC, Courval A, El Alloussi M, Laouina S, Soskin S, Guffon N, Dieux A, Doray B, Feierabend S, Ginglinger E, Fournier B, de la Dure Molla M, Alembik Y, Tardieu C, Clauss F, Berdal A, Stoetzel C, Maniere MC, Dollfus H, Bloch-Zupan A. A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. J Med Genet. 2016 Feb;53(2):98-110. doi: 10.1136/jmedgenet-2015-103302. Epub 2015 Oct 26.
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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.
Bloch-Zupan Agnes, DChD, PhD, HDR, PU-PH principal investigator
University Hospital of Strasbourg
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Amelogenesis Imperfecta, run by University Hospital, Strasbourg, France 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 7 inclusion and 6 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: stopped early, as of the sponsor's last update on 11 Jul 2018. 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 was stopped early. Results are not available in the source record.
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?
Natural history of Amelogenesis Imperfecta (time frame: at day of enrollment). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01746121, which also lists 2 linked publications.
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 11 Jul 2018.