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

• Conditions: Hurler-Scheie Syndrome; metabolic disorder; 10027424; 10013317

• Registration Number: NL-OMON49498
• Lead Sponsor: Erasmus MC, Universitair Medisch Centrum Rotterdam

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 15 April 2024

Recruitment & Eligibility

• Status: Pending
• Sex: Not specified
• Target Recruitment: 60

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

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

Study & Design

• Study Type: Observational non invasive
• Study Design: Not specified

Primary Outcome Measures

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

Secondary Outcome Measures

Name	Time	Method
<p>n.a.</p><br>