Core Outcome Set for Head, Neck and Respiratory Disease in Mucopolysaccharidosis II

Completed

• Conditions: Mucopolysaccharidosis Type II

• Registration Number: NCT06022380
• Lead Sponsor: Manchester University NHS Foundation Trust

Brief Summary

The Mucopolysaccharidoses (MPS) are a family of genetic metabolic disorders, caused by specific enzyme deficiencies which result in accumulation of partially degraded glycosaminoglycans (GAGs) within various tissues. As GAGs are common in the body a number of different organ systems can be affected. Involvement of the upper and lower respiratory tract in MPS Type II results in significant airway compromise, with progressive airway obstruction being responsible for a significant proportion of the morbidity and mortality associated with this condition. Hearing loss is a universal finding in MPS, with a third of patients suffering with severe profound hearing loss. There is an unmet need for strong clinical evidence to guide treatment of head, neck and respiratory disease in MPS disorders. A Core Outcome Set (COS) describes the minimum outcome data that should be measured in a clinical study for a particular condition. The lack of an agreed COS for MPS II in general, and specifically head, neck and respiratory disease, makes comparison between studies difficult. There is also a lack of information detailing patient and parent perspectives on the MPS disorders. The ideal COS for head, neck and respiratory disease associated with MPS II would combine both patient/parent and clinician opinion and could be used in the design of all subsequent clinical studies. Following literature review the investigators have created a list of outcomes previously reported for qualitative and quantitative studies investigating head, neck and respiratory disease in MPS II. For the proposed research the investigators will seek opinions of patients, parents, clinicians and scientists to rate these outcomes via the Delphi method. Outcomes scored highest by patients, parents, clinicians and scientists will form a COS for head, neck and respiratory disease in MPS II. The development of a COS can help limit variability outcomes in studies investigating different interventions in MPS II.

Detailed Description

Not available

Study Timeline

• Study Start: 2020-09-28
• Primary Completion: 2021-06-30
• Study Completion: 2021-06-30
• Status Verified: 2023-08
• Study First Submitted: 2023-08-24
• Study First Submitted QC: 2023-08-31
• Last Update Submitted: 2023-08-31
• Study First Posted: 2023-09-01
• Last Update Posted: 2023-09-01

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 46

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
What are the most important outcomes that should be measured in trials examining ENT and respiratory disease in MPS Type II populations, aged 0-11 and 12-25 years old?	8 months	Step 1. A systematic review of the literature and clinical trials registries (including the Hunter Outcome Survey) was undertaken to identify a comprehensive list of head, neck and respiratory disease outcomes reported in literature and trials of MPS Type II population. Additionally, qualitative research investigated perspectives of patients with MPS Type II.; Step 2. A Delphi survey of 3 key stakeholder groups (Patients (only for COS for the age group 12-25 years old), parents/ care givers, MPS Type II healthcare professionals), will be undertaken to try to achieve consensus about the outcomes to include in a COS.; Step 3, This will be followed by a consensus meeting of key stakeholders to ratify the COS.

Trial Locations

Locations (1)

Manchester University NHS Foundation Trust; 🇬🇧 Manchester, Lancashire, United Kingdom