Mucopolysaccharidosis Type IICOHERENCT06022380
Core Outcome Set for Head, Neck and Respiratory Disease in Mucopolysaccharidosis II
An observational study of Mucopolysaccharidosis Type II, run by Manchester University NHS Foundation Trust at 1 site in United Kingdom.
Trial 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. Read more about this study
- Who is it for?
- Ages 0 to 100 years
- Conditions the study is for
- Mucopolysaccharidosis Type II
- How many people
- 46 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 28 Sep 2020to 30 Jun 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
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 0 to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients and parents, clinicians and scientists
Who may be able to join
- Confirmed MPS II diagnosis.
- Aged between 12 and 25 years old.
- Parents/ main care givers of child with MPS Type II.
- Adults aged 18 or over.
- Clinicians responsible for direct care and management of at least 2 pediatric MPS Type II patients in the last 12 months.
- Scientists who have worked with MPS Type II within the last 5 years
Who cannot join
- Unconfirmed MPS Type II diagnosis.
- Aged below 12 and above 25 years old.
- Not directly involved in a day to day care.
- Clinicians who only occasionally look after pediatric MPS Type II patients.
- Scientists who have not worked with MPS Type II within the last 5 years
Trial locations and contacts
1 site in 1 country.
United Kingdom1 site
Manchester University NHS Foundation Trust
Manchester, Lancashire, M13 9WL
About this study
Official title: COHERE - Core Outcome Set for Head, Neck and Respiratory Disease in Mucopolysaccharidosis II
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.
- Conditions
- Mucopolysaccharidosis Type II
- Medical subject headings
- Mucopolysaccharidosis II
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 |
|---|---|---|
| Round 1 | Participants will be asked to score each outcome domain on a 9 point scale proposed by the GRADE group [http://www.gradeworkinggroup.org], in which 1 to 3 signifies an outcome of 'limited importance', 4 to 6 'important but not critical', and 7 to 9 'critical'. Round 1 will also provide participants with the opportunity to add further outcomes which they think may be important. Any suggested outcomes deemed to represent a new outcome domain by the study group (following discussion within study advisory group and a majority decision) will be added to the list for consideration in round two. Round 1 will last for approximately 2 months. | |
| Round 2 | All items (in addition to further new outcome domains identified by participants in round 1) will be carried forward for consideration in round 2. Descriptive statistics (graphs) will be used to summarize the scores from round 1 and presented to participants. Participants will see the results of their individual score for each outcome in addition to the median score of each stakeholder group. The rationale for showing participants the scores from other groups is that it may improve consensus between the stakeholder groups. In addition, by carrying all items forward from round 1, it may be possible to identify changes in scoring patterns as a result of viewing other scores. Participants will be asked to score all items once again using the 9-point scale. Round 2 will last for approximately 2 month |
What is being measured
The primary outcome is the main question the study is designed to answer.
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?
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.
Measured: 8 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Sep 2023
- Study start28 Sep 2020
- Primary completion30 Jun 2021
- Study completion30 Jun 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mucopolysaccharidosis Type IIStudies 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 46 participants (actual)
Sponsor and investigators
- Lead sponsor
- Manchester University NHS Foundation Trust
- Sponsor type
- Other government
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06022380
- Sponsor's protocol ID
- B00446 - COHERE
- Other IDs
- 261752
- Acronym
- COHERE
- Status last verified
- Aug 2023
- First submitted
- 24 Aug 2023
- Last updated
- 1 Sep 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 1 Sep 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- COHERE - Core Outcome Set for Head, Neck and Respiratory Disease in Mucopolysaccharidosis II
- ClinicalTrials.gov ID
- NCT06022380
- Acronym / sponsor ID
- COHERE / B00446 - COHERE
- Conditions
- Mucopolysaccharidosis Type II
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 46 participants (actual)
- Lead sponsor
- Manchester University NHS Foundation TrustOther government
- Study start
- 28 Sep 2020 (actual)
- Primary completion
- 30 Jun 2021 (actual)
- Study completion
- 30 Jun 2021 (actual)
- First posted
- 1 Sep 2023 (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.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Round 1 | – | –Participants will be asked to score each outcome domain on a 9 point scale proposed by the GRADE group [http://www.gradeworkinggroup.org], in which 1 to 3 signifies an outcome of 'limited importance', 4 to 6 'important but not critical', and 7 to 9 'critical'. Round 1 will also provide participants with the opportunity to add further outcomes which they think may be important. Any suggested outcomes deemed to represent a new outcome domain by the study group (following discussion within study advisory group and a majority decision) will be added to the list for consideration in round two. Round 1 will last for approximately 2 months. |
| Round 2 | – | –All items (in addition to further new outcome domains identified by participants in round 1) will be carried forward for consideration in round 2. Descriptive statistics (graphs) will be used to summarize the scores from round 1 and presented to participants. Participants will see the results of their individual score for each outcome in addition to the median score of each stakeholder group. The rationale for showing participants the scores from other groups is that it may improve consensus between the stakeholder groups. In addition, by carrying all items forward from round 1, it may be possible to identify changes in scoring patterns as a result of viewing other scores. Participants will be asked to score all items once again using the 9-point scale. Round 2 will last for approximately 2 month |
Who may qualify
- Ages
- 0 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients and parents, clinicians and scientists
Key inclusion criteria (6 listed)
- Confirmed MPS II diagnosis.
- Aged between 12 and 25 years old.
- Parents/ main care givers of child with MPS Type II.
- Adults aged 18 or over.
- Clinicians responsible for direct care and management of at least 2 pediatric MPS Type II patients in the last 12 months.
Key exclusion criteria (5 listed)
- Unconfirmed MPS Type II diagnosis.
- Aged below 12 and above 25 years old.
- Not directly involved in a day to day care.
- Clinicians who only occasionally look after pediatric MPS Type II patients.
- Scientists who have not worked with MPS Type II within the last 5 years
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
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?
Time frame: 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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Sep 2023.
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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. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
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 Mucopolysaccharidosis Type II, run by Manchester University NHS Foundation Trust at 1 site in United Kingdom.
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 6 inclusion and 5 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: finished, as of the sponsor's last update on 1 Sep 2023. 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 United Kingdom. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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? (time frame: 8 months). 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 1 Sep 2023.