Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism (NCT04248062) | Clinical Trial Compass
CompletedNot Applicable
Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
Switzerland69 participantsStarted 2019-08-01
Plain-language summary
lnborn errors of metabolism (IEM) are a heterogeneous group of rare, sometimes debilitating or even fatal diseases . In IEM, both definition and assessment of meaningful outcome parameters is often extremely difficult resulting in a limited body of evidence. Limited evidence results in weak recommendations which are perceived as unbinding and thus sustains heterogeneous study designs, choice of outcomes and interventions again producing non-uniform data.
The goal of the current study is to identify and select reliable instruments, that measure patients' and their parents' perception about relevant (social, emotional, cognitive and physical) aspects in their lives. This set of instruments will secure the comparability of future research findings. Furthermore this instruments will improve the screening of paediatric IEM patients regarding their need for additional (psychosocial or consultative) support in daily hospital routine.
Who can participate
Age range
18 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
\*Statements above refer to IEM patients included in the study
Inclusion Criteria (patients):
* Suffering from rare IEM (e.g. phenylketonuria, urea cycle disorders, maple syrup urine disease, methylmalonic acidemia)
* Ability to understand German language
* Cognitive ability to complete the basic survey items
Inclusion Criteria (parents):
* Ability to understand German language
* Parents of a child suffering from IEM
Inclusion Criteria (experts):
* More than 1 year of practical experience in the field of IEM
* Ability to understand written English
Exclusion Criteria (patients):
* Older than 18 years
* Severe cognitive impairment (ability to complete the Survey not existent)
Inclusion Criteria (parents):
* No ability to understand German language
Exclusion Criteria (experts):
* Less than 1 year of practical experience in the field of IEM
* No ability to understand written English
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Average importance of patient reported outcomes (PRO) after first Delphi survey
Timeframe: 15 minutes (for Delphi survey 1)
2
Average importance of patient reported outcomes (PRO) after second Delphi survey