Prioritisation of head, neck, and respiratory outcomes in mucopolysaccharidosis type II: lessons from a rare disease consensus exercise and comparison of parental and clinical priorities
A novel methodology for determining a core outcome set in rare diseases has been recommended. Both functional and quality of life outcomes were identified by the three age groups of individuals and/or their parents. Adoption of these sets of outcomes in future clinical trials and/or clinical practice will enable comparison of outcomes reported.
Authors
- Jessica Daniels (ORCID: https://orcid.org/0000-0002-6359-1114)
- J.F. Dempsey (ORCID: https://orcid.org/0009-0007-1318-9358)
- Simon A. Jones (ORCID: https://orcid.org/0000-0001-7297-9711)
- Mira de Kruijf
- Sophie Thomas (ORCID: https://orcid.org/0000-0002-8349-9980)
- Iain Bruce (ORCID: https://orcid.org/0000-0003-0831-4760)
- Aleksandra Metryka (ORCID: https://orcid.org/0000-0001-9871-5167)
- Roulla Katiri (ORCID: https://orcid.org/0000-0001-7098-8024)
- Stuart Wilkinson (ORCID: https://orcid.org/0000-0001-7913-974X)
Institutions
- University College London Hospitals NHS Foundation Trust (GB)
- University of Nottingham (GB)
- Manchester Academic Health Science Centre (GB)
- University of Manchester (GB)
- Manchester University NHS Foundation Trust (GB)
- Eastman Dental Hospital (GB)
- Royal Manchester Children's Hospital (GB)
- Royal Blackburn Teaching Hospital (GB)
- University College London (GB)
- East Lancashire Hospitals NHS Trust (GB)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-02-26
- DOI
- https://doi.org/10.1186/s13023-025-03581-y
- Primary Topic
- Delphi Technique in Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00