Orofacial abnormalities of patients with mucopolysaccharidoses or mucolipidosis II or III in the Netherlands, a singlecenter study

Orofacial abnormalities of patients with mucopolysaccharidoses or mucolipidosis II or III in the Netherlands, a singlecenter study - Orofacial abnormalities of patients with MPS or ML II/III

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON49498

Enrollment

Registered

2021-03-30

Start date

2021-01-01

Completion date

Unknown

Last updated

2024-04-15

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hurler-Scheie Syndrome metabolic disorder

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: Patients diagnosed with MPS or ML II or ML III (enzyme and/or DNA diagnostics) and known in the Erasmus MC.

Exclusion criteria

Exclusion criteria: - Patients who don't want to participate in the study; - Patients with an end-stage disease or other medical conditions making the examinations impossible.

Design outcomes

Primary

Measure	Time frame
- The incidence of orofacial abnormalities, determined with light photos, CBCT-scans, 3D stereophotographs, Temporomandibular Joint Examination (Diagnostic Criteria for Temporomandibular Disorders, DC-TMD) and a general dental/oral examination. - Outcomes of questionnaires filled out by the patient/caregiver (OHIP-14 / COHIP (Child Oral Health Impact Profile) and Darriford appearance scale (for non-neuronopathic adult patients)).	—

Measure

Time frame

- The incidence of orofacial abnormalities, determined with light photos, CBCT-scans, 3D stereophotographs, Temporomandibular Joint Examination (Diagnostic Criteria for Temporomandibular Disorders, DC-TMD) and a general dental/oral examination. - Outcomes of questionnaires filled out by the patient/caregiver (OHIP-14 / COHIP (Child Oral Health Impact Profile) and Darriford appearance scale (for non-neuronopathic adult patients)).

—

Secondary

Measure	Time frame
n.a.	—

Countries

Netherlands

Outcome results