Mowat-Wilson SyndromeORALMOWAT26NCT07476417
Oral Health, Dento-facial Condition and OHRQoL in Subjects With Mowat-Wilson Syndrome: an Epidemiologic Study.
An observational study of Mowat-Wilson Syndrome and Dental Caries, run by University of Milan at 1 site in Italy.
Trial summary
Mowat-Wilson Syndrome (MWS) is a rare syndrome characterized by the presence of facial gestalt and delayed psychomotor development, variably associated with intellectual disability, epilepsy, Hirschsprung's disease (HSCR) and multiple congenital malformations. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Mowat-Wilson Syndrome, Dental Caries, Periodontal Diseases
- How many people
- 25 participants
- Where
- 1 siteItaly
- Study dates
- 1 Apr 2026to 30 Aug 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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: Partecipants will be enrolled from those who will attend the annual meeting of the Italian Mowat Wilson Association
Who may be able to join
- individuals affected by MWS with confirmed molecularly diagnosis of ZEB2 gene variation.
- written informed consent statement signed by parents/legal guardians for participation in the study
Who cannot join
- individuals not affected by MWS
- refusal of parents/legal guardians to participate in the study
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Araxi Balian, DDS, MSc, PhD contact
Italy1 site
University of Milan
Milan
Maria Grazia Cagetti, DDS, MSc, PhD, +39 02503 19008, maria.cagetti@unimi.it
Araxi Balian, DDS, MSc, PhD, araxibalian@gmail.com
About this study
Mowat-Wilson Syndrome (MWS) is a rare syndrome characterized by the presence of facial gestalt and delayed psychomotor development, variably associated with intellectual disability, epilepsy, Hirschsprung's disease (HSCR) and multiple congenital malformations.
Although there is evidence of the presence of dental and craniofacial anomalies in MWS, little epidemiological data is available to date.
The goal of this observational study is to assess oral health and dento-facial phenotype of people affected by Mowat-Wilson Syndrome (MWS). In addition, the Oral Health Related Quality of Life (OHRQoL) will be investigated.
Read the detailed description
Subjects will be recruited from those attending the annual meeting of Mowat Wilson Italian Association, whose parents/guardians will have agreed and signed informed consent for their participation in the study.
Parents/guardians will be asked to answer to a series of questionnaires regarding comprehensive medical and dental history, oral habits, socioeconomic status, and oral-health related quality of life (OHRQoL).
Participants will then undergo intraoral and extraoral examination, extraoral photographs of the face; dental and facial digital scans will be also collected.
Parents/guardians will be asked to provide any dental radiographs of subjects (panoramic dental x-ray, dental computer tomography, lateral skull radiographs for cephalometry) if previously performed .
- Conditions
- Mowat-Wilson Syndrome, Dental Caries, Periodontal Diseases, Sleep Related Breathing Disorder, Tooth Diseases, Malocclusion
- Keywords
- Mowat-Wilson syndrome, dental caries, periodontal diseases, malocclusion, oral health, Craniofacial Abnormalities
- Medical subject headings
- Mowat-Wilson syndrome, Dental Caries, Periodontal Diseases, Tooth Diseases, Malocclusion, Tooth Abnormalities, Craniofacial Abnormalities
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Individuals diagnosed with MWS | Subects affected by MWS with molecularly confirmed diagnosis of ZEB2 gene variation. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Dental caries assessment
Dental caries will be measured as follows:
- frequency of individuals with dental caries
- distribution of patients' dental caries experience according to the individual DMFT index score (ranging from 0 to 28, where zero is equivalent to "no dental caries experience" and 28 that all teeth have been affected)
- localization (type of tooth; permanent/decidous teeth) and severity of dental caries according to the ICDAS index (ranging from 0 to 6, where zero is equivalent to "sound tooth" and 6 to "extensive cavity with visible dentin")
Measured: Baseline
Facial morphometric assessment
Facial soft tissue characteristics will be measured by 2D and 3D analysis performed on frontal/lateral photographs of the face and 3D face scanning, respectively.
Extraoral facial photographs will be used for 2D facial morphometric analysis, both frontal and profile views, using OrthoTP® software (Microlab, Italy).
3D facial morphometric analysis will be performed on the 3D reconstructions of the subjects' facial scans using VAM software (Canfield Scientific, Inc., Parsippany, NJ, USA).
The reference landmarks and planes for both 2D and 3D facial morphometric analyses were selected according to international criteria and previously validated protocols that have also been applied in the study of subjects with facial dysmorphisms.
The values obtained will be compared with reference values reported in the literature for the general population matched for age and sex.
Measured: Baseline
Cephalometric assessment
Dento-skeletal characteristics will be measured by cephalometric analysis performed on lateral skull radiographs of patients, if previously performed and provided by the parents/guardians.
Cephalometric tracings and measures will be performed using OrthoTP® software (Microlab, Italy).
The cephalometric analysis method that will be adopted is that of the Milan School of Orthodontics, which includes several analyses commonly used in orthodontics and internationally validated.
Measured: Baseline
Dental arch assessment
Molar and canine Angle's dental arch relationships, frequency and degree of dental crowding/spacing, dental arch widths (intercanine, interpremolar, and intermolar widths) and depth will be assessed on patient's intraoral digital scans using VAM software (Canfield Scientific, Inc., Parsippany, NJ, USA).
Measured: Baseline
Dental anomalies assessment
Frequency and type of dental anomalies (missing and/or suvrannumerary tooth; micro/macrodontia; tooth inclusion; tooth displacement; alterations in tooth morphology) will be assessed during the dental examination and on dental radiographs of subjects (panoramic dental x-ray, dental computer tomography) if provided by the parents/guardians
Measured: Baseline
Dental plaque assessment
Mean and distribution of the WHO Plaque Index (PI) will be calculated. PI score can range from 0 to 3 (where 0 is "absence of dental plaque" and 3 is "abundant and visibile dental plaque").
Measured: Baseline
Developmental Defects of Enamel (DDEs) assessment
Frequency, type and localization of DDEs will be assessed using the DDE index. The DDE index classifies enamel defects according to their clinical appearance. It categorizes defects into three main types: demarcated opacities, diffuse opacities, and enamel hypoplasia, and also allows the recording of combinations of these defects. The index records the type, distribution, and extent of the defect on each tooth surface, enabling consistent documentation and comparison of enamel developmental defects in clinical and epidemiological study.
When the phenotypic appearance will suggest specific alterations consistent with molar-incisor hypomineralization (MIH) or dental fluorosis, specific indices will be used to assess the severity of the lesions (MIH and Dean indexes).
Measured: Baseline
Periodontal health assessment
The Community Periodontal Index (CPI) will be used to assess in the 6 sextants of the mouth the parodontal status. The CPI ranges from 0 to 4, where zero stands for "healthy gingiva" and 4 for "deep pocket of 6 mm or more".
Measured: Baseline
Oral mucosa lesion assessment
Frequency, type (e.g. abscess, leukoplakia, ulcer, oral candidiasis, etc...), and localization (vermilion borderof the lips, commisure of lips, lips, buccal mucosa, floor of mouth, tongue, palate, gum) of oral mucosal lesion will be assessed.
Measured: Baseline
Morphological facial assessment
Frequency of convex and concave facial profile, brachicephalic (short-headed) and dolicocephalic (long-headed) craniofacial shape, decreased and increased lower third of the face, and mandibular and facial asymmetry will be assessed.
Measured: Baseline
Occlusal assessment
The frequency of Class I, Class II, Class III, deepbite, openibite, crossbite, and scissorbite malocclusions, increased and/or decreased overjet and overbite, dental crowding, and spacing will be assessed.
Measured: Baseline
Oral functional assessment
Frequency and type of oral habits/oral dysfunctions (e.g. oral breathing, tongue thrust, non-sucking habits, sleep apnoea, bruxism, etc...), tonsillar hypertrophy (Mallampati index), soft palate position (Friedman index), and temporomandibular disorders (TMD) will be assessed.
Measured: Baseline
Oral Health Realated Quality of Life (OHRQoL)
Oral Health-Related Quality of Life will be assessed using standardized questionnaires: one for subjects up to 17 years of age (P-CPQ Questionnaire) and another for subjects aged 18 years and older (OHIP-14 Questionnaire).
Measured: Baseline
Secondary outcomes (1)
Phenotype and genotype association
Correlation between genotype and phenotype will be investigated by analyzing the association between the dental, occlusal, and facial characteristics observed and the three main genetic variants of mutation of the ZEB2 gene (complete deletion; absence of protein; defective protein) through Chi-squared and Fisher's exact tests.
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Mar 2026
- Study start1 Apr 2026 (estimated)
- Primary completion31 May 2026 (estimated)
- Study completion30 Aug 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mowat-Wilson SyndromeStudies 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
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 25 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Milan
- Sponsor type
- University, hospital or other
- Collaborators
- Associazione Italiana Mowat Wilson (Mowat Wilson Italian Association)
- Responsible party
- Principal investigator, Maria Grazia Cagetti, University of Milan
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07476417
- Sponsor's protocol ID
- EC University of Milan 126/25
- Acronym
- ORALMOWAT26
- Status last verified
- Mar 2026
- First submitted
- 6 Mar 2026
- Last updated
- 24 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Individual de-identified patient data will be shared on the respository UNIMI Dataverse
Study at a glance
From the registry record, last updated by the sponsor on 24 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Oral Health, Dento-facial Condition and OHRQoL in Subjects With Mowat-Wilson Syndrome: an Epidemiologic Study.
- ClinicalTrials.gov ID
- NCT07476417
- Acronym / sponsor ID
- ORALMOWAT26 / EC University of Milan 126/25
- Conditions
- Mowat-Wilson Syndrome, Dental Caries, Periodontal Diseases, Sleep Related Breathing Disorder, Tooth Diseases, Malocclusion
- Keywords
- Mowat-Wilson syndrome, dental caries, periodontal diseases, malocclusion, oral health, Craniofacial Abnormalities
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 25 participants (estimated)
- Lead sponsor
- University of MilanUniversity, hospital or other
- Collaborators
- Associazione Italiana Mowat Wilson (Mowat Wilson Italian Association)
- Study start
- 1 Apr 2026 (estimated)
- Primary completion
- 31 May 2026 (estimated)
- Study completion
- 30 Aug 2026 (estimated)
- First posted
- 17 Mar 2026 (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.
Mowat-Wilson Syndrome (MWS) is a rare syndrome characterized by the presence of facial gestalt and delayed psychomotor development, variably associated with intellectual disability, epilepsy, Hirschsprung's disease (HSCR) and multiple congenital malformations.
Although there is evidence of the presence of dental and craniofacial anomalies in MWS, little epidemiological data is available to date.
The goal of this observational study is to assess oral health and dento-facial phenotype of people affected by Mowat-Wilson Syndrome (MWS). In addition, the Oral Health Related Quality of Life (OHRQoL) will be investigated.
Detailed description
Subjects will be recruited from those attending the annual meeting of Mowat Wilson Italian Association, whose parents/guardians will have agreed and signed informed consent for their participation in the study.
Parents/guardians will be asked to answer to a series of questionnaires regarding comprehensive medical and dental history, oral habits, socioeconomic status, and oral-health related quality of life (OHRQoL).
Participants will then undergo intraoral and extraoral examination, extraoral photographs of the face; dental and facial digital scans will be also collected.
Parents/guardians will be asked to provide any dental radiographs of subjects (panoramic dental x-ray, dental computer tomography, lateral skull radiographs for cephalometry) if previously performed .
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Individuals diagnosed with MWS | – | –Subects affected by MWS with molecularly confirmed diagnosis of ZEB2 gene variation. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Partecipants will be enrolled from those who will attend the annual meeting of the Italian Mowat Wilson Association
Key inclusion criteria (2 listed)
- individuals affected by MWS with confirmed molecularly diagnosis of ZEB2 gene variation.
- written informed consent statement signed by parents/legal guardians for participation in the study
Key exclusion criteria (2 listed)
- individuals not affected by MWS
- refusal of parents/legal guardians to participate in the study
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Dental caries assessment
Time frame: Baseline
Dental caries will be measured as follows: * frequency of individuals with dental caries * distribution of patients' dental caries experience according to the individual DMFT index score (ranging from 0 to 28, where zero is equivalent to "no dental caries experience" and 28 that all teeth have been affected) * localization (type of tooth; permanent/decidous teeth) and severity of dental caries according to the ICDAS index (ranging from 0 to 6, where zero is equivalent to "sound tooth" and 6 to "extensive cavity with visible dentin")
Facial morphometric assessment
Time frame: Baseline
Facial soft tissue characteristics will be measured by 2D and 3D analysis performed on frontal/lateral photographs of the face and 3D face scanning, respectively. Extraoral facial photographs will be used for 2D facial morphometric analysis, both frontal and profile views, using OrthoTP® software (Microlab, Italy). 3D facial morphometric analysis will be performed on the 3D reconstructions of the subjects' facial scans using VAM software (Canfield Scientific, Inc., Parsippany, NJ, USA). The reference landmarks and planes for both 2D and 3D facial morphometric analyses were selected according to international criteria and previously validated protocols that have also been applied in the study of subjects with facial dysmorphisms. The values obtained will be compared with reference values reported in the literature for the general population matched for age and sex.
Cephalometric assessment
Time frame: Baseline
Dento-skeletal characteristics will be measured by cephalometric analysis performed on lateral skull radiographs of patients, if previously performed and provided by the parents/guardians. Cephalometric tracings and measures will be performed using OrthoTP® software (Microlab, Italy). The cephalometric analysis method that will be adopted is that of the Milan School of Orthodontics, which includes several analyses commonly used in orthodontics and internationally validated.
Dental arch assessment
Time frame: Baseline
Molar and canine Angle's dental arch relationships, frequency and degree of dental crowding/spacing, dental arch widths (intercanine, interpremolar, and intermolar widths) and depth will be assessed on patient's intraoral digital scans using VAM software (Canfield Scientific, Inc., Parsippany, NJ, USA).
Dental anomalies assessment
Time frame: Baseline
Frequency and type of dental anomalies (missing and/or suvrannumerary tooth; micro/macrodontia; tooth inclusion; tooth displacement; alterations in tooth morphology) will be assessed during the dental examination and on dental radiographs of subjects (panoramic dental x-ray, dental computer tomography) if provided by the parents/guardians
Dental plaque assessment
Time frame: Baseline
Mean and distribution of the WHO Plaque Index (PI) will be calculated. PI score can range from 0 to 3 (where 0 is "absence of dental plaque" and 3 is "abundant and visibile dental plaque").
Developmental Defects of Enamel (DDEs) assessment
Time frame: Baseline
Frequency, type and localization of DDEs will be assessed using the DDE index. The DDE index classifies enamel defects according to their clinical appearance. It categorizes defects into three main types: demarcated opacities, diffuse opacities, and enamel hypoplasia, and also allows the recording of combinations of these defects. The index records the type, distribution, and extent of the defect on each tooth surface, enabling consistent documentation and comparison of enamel developmental defects in clinical and epidemiological study. When the phenotypic appearance will suggest specific alterations consistent with molar-incisor hypomineralization (MIH) or dental fluorosis, specific indices will be used to assess the severity of the lesions (MIH and Dean indexes).
Periodontal health assessment
Time frame: Baseline
The Community Periodontal Index (CPI) will be used to assess in the 6 sextants of the mouth the parodontal status. The CPI ranges from 0 to 4, where zero stands for "healthy gingiva" and 4 for "deep pocket of 6 mm or more".
Oral mucosa lesion assessment
Time frame: Baseline
Frequency, type (e.g. abscess, leukoplakia, ulcer, oral candidiasis, etc...), and localization (vermilion borderof the lips, commisure of lips, lips, buccal mucosa, floor of mouth, tongue, palate, gum) of oral mucosal lesion will be assessed.
Morphological facial assessment
Time frame: Baseline
Frequency of convex and concave facial profile, brachicephalic (short-headed) and dolicocephalic (long-headed) craniofacial shape, decreased and increased lower third of the face, and mandibular and facial asymmetry will be assessed.
Occlusal assessment
Time frame: Baseline
The frequency of Class I, Class II, Class III, deepbite, openibite, crossbite, and scissorbite malocclusions, increased and/or decreased overjet and overbite, dental crowding, and spacing will be assessed.
Oral functional assessment
Time frame: Baseline
Frequency and type of oral habits/oral dysfunctions (e.g. oral breathing, tongue thrust, non-sucking habits, sleep apnoea, bruxism, etc...), tonsillar hypertrophy (Mallampati index), soft palate position (Friedman index), and temporomandibular disorders (TMD) will be assessed.
Oral Health Realated Quality of Life (OHRQoL)
Time frame: Baseline
Oral Health-Related Quality of Life will be assessed using standardized questionnaires: one for subjects up to 17 years of age (P-CPQ Questionnaire) and another for subjects aged 18 years and older (OHIP-14 Questionnaire).
1 secondary outcome
Phenotype and genotype association
Time frame: Baseline
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Mar 2026.
- Individual participant dataSharing planned: Yes. Individual de-identified patient data will be shared on the respository UNIMI Dataverse
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.
Araxi Balian, DDS, MSc, PhD contact
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 Mowat-Wilson Syndrome and Dental Caries, run by University of Milan at 1 site in Italy.
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: opening soon, as of the sponsor's last update on 24 Mar 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 Italy. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Maria Grazia Cagetti, DDS, MSc, PhD (+39 02503 19008, maria.cagetti@unimi.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Dental caries assessment (time frame: Baseline). The study lists 13 primary outcomes in all. 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 24 Mar 2026.