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Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism

NCT04248062 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 69

Last updated 2020-11-04

No results posted yet for this study

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.

Conditions

  • Inborn Errors of Metabolism
  • Urea Cycle Disorder
  • Maple Syrup Urine Disease
  • Phenylketonurias
  • Methylmalonicacidemia
  • OTC Deficiency
  • Aminoacidopathy
  • Patient Reported Outcome Measurements

Interventions

OTHER

Survey

Survey: 38 preselected patient and parent reported outcomes; rating scale: 9 point likert scale (1=not at all important - 9=very important)

Sponsors & Collaborators

  • University Children's Hospital, Zurich

    lead OTHER

Principal Investigators

  • Martina Huemer · University Children's Hospital, Zurich

Eligibility

Max Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-08-01
Primary Completion
2020-08-29
Completion
2020-10-16

Countries

  • Switzerland

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04248062 on ClinicalTrials.gov