Pompe DiseasePompe_HrQolNCT04724213
Development of an Assessment Tool for Health-related Quality of Life in Children and Adolescents With Pompe Disease
A study testing Testing of reliability / validity of new questionnaire in people with Pompe Disease, run by University Children's Hospital, Zurich at 1 site in Switzerland.
Trial summary
Health related quality of life (HrQoL), is "the patient's subjective perception of the impact of his disease and its treatment on his daily life, physical, psychological and social functioning and well-being" and thus constitutes a patient reported outcome (PRO) of utmost importance. Read more about this study
- Who is it for?
- Ages 8 years and older
- Conditions the study is for
- Pompe Disease
- What is being tested?
- Testing of reliability / validity of new questionnaire
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 101 participants
- Where
- 1 siteSwitzerland
- Study dates
- 1 Jul 2021to 1 Dec 2023
- Phase
- Interventional
- 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 8 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Patients with PD from age 8 years
- Parent of patient(s) < 18 years with PD
- Able to give informed consent as documented by signature
- Sufficient command of the German language
Who cannot join
- - Inability to follow the procedures of the study, e.g. due to language problems or severely reduced health status
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Development and Validation of a Standardized Assessment Instrument for Health-related Quality of Life (HrQoL) in Children and Adolescents With Pompe Disease (PD): a Joint Effort of Patients, Caregivers and Metabolic Experts
Health related quality of life (HrQoL), is "the patient's subjective perception of the impact of his disease and its treatment on his daily life, physical, psychological and social functioning and well-being" and thus constitutes a patient reported outcome (PRO) of utmost importance. Generic HrQoL instruments can by definition not capture disease-specific parameters nor are they sensitive enough to detect their changes. In this study, a disease-specific HrQoL questionnaire for children and adolescents will be developed. Patients and parents will be involved in focus groups and interviews to identify relevant contents. The instrument will be tested for validity and reliability.
- Conditions
- Pompe Disease
- Being tested
- Testing of reliability / validity of new questionnaire
- Medical subject headings
- Glycogen Storage Disease Type II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Testing of reliability / validity of new questionnaireOther
Participants will answer new questionnaire and other, established, generic and chronic generic HrQol instruments
| Study group | Role | What they receive |
|---|---|---|
| Testing of reliability / validity of new questionnaire | Other | Not described Receives: Other: Testing of reliability / validity of new questionnaire |
What is being measured
The primary outcome is the main question the study is designed to answer.
Reliability/ validity of questionnaire
Measured: 15 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Jan 2021
- Study start1 Jul 2021
- Primary completion1 Dec 2023
- Study completion1 Dec 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pompe DiseaseStudies 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 101 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Children's Hospital, Zurich
- Sponsor type
- University, hospital or other
- Collaborators
- Sanofi
- Responsible party
- Sponsor
- Investigators
- Martina Huemer, Prof dr, Principal investigator, University Childrens Hospital Zurich
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04724213
- Sponsor's protocol ID
- Pompe_HrQol
- Acronym
- Pompe_HrQol
- Status last verified
- Dec 2023
- First submitted
- 20 Jan 2021
- Last updated
- 5 Dec 2023
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Dec 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Development and Validation of a Standardized Assessment Instrument for Health-related Quality of Life (HrQoL) in Children and Adolescents With Pompe Disease (PD): a Joint Effort of Patients, Caregivers and Metabolic Experts
- ClinicalTrials.gov ID
- NCT04724213
- Acronym / sponsor ID
- Pompe_HrQol / Pompe_HrQol
- Conditions
- Pompe Disease
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 101 participants (actual)
- Lead sponsor
- University Children's Hospital, ZurichUniversity, hospital or other
- Collaborators
- Sanofi
- Study start
- 1 Jul 2021 (actual)
- Primary completion
- 1 Dec 2023 (actual)
- Study completion
- 1 Dec 2023 (actual)
- First posted
- 26 Jan 2021 (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.
Health related quality of life (HrQoL), is "the patient's subjective perception of the impact of his disease and its treatment on his daily life, physical, psychological and social functioning and well-being" and thus constitutes a patient reported outcome (PRO) of utmost importance. Generic HrQoL instruments can by definition not capture disease-specific parameters nor are they sensitive enough to detect their changes. In this study, a disease-specific HrQoL questionnaire for children and adolescents will be developed. Patients and parents will be involved in focus groups and interviews to identify relevant contents. The instrument will be tested for validity and reliability.
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Testing of reliability / validity of new questionnaire | Other | Other: Testing of reliability / validity of new questionnaire |
Who may qualify
- Ages
- 8 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- Patients with PD from age 8 years
Key exclusion criteria (1 listed)
- - Inability to follow the procedures of the study, e.g. due to language problems or severely reduced health status
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Testing of reliability / validity of new questionnaireParticipants will answer new questionnaire and other, established, generic and chronic generic HrQol instruments | Other | Testing of reliability / validity of new questionnaire |
Primary outcome
Reliability/ validity of questionnaire
Time frame: 15 months
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 5 Dec 2023.
- Individual participant dataSharing planned: No
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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.
Martina Huemer, Prof dr principal investigator
University Childrens Hospital Zurich
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Testing of reliability / validity of new questionnaire in people with Pompe Disease, run by University Children's Hospital, Zurich at 1 site in Switzerland.
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 4 inclusion and 1 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 5 Dec 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 Switzerland. 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?
Reliability/ validity of questionnaire (time frame: 15 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 5 Dec 2023.