Development of an Assessment Tool for Health-related Quality of Life in Children and Adolescents With Pompe Disease

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.

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Key information

Conditions

Pompe Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Glycogen Storage Disease Glycogen Storage Disease Type II Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases

Age range

8 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

University Childrens Hospital Zürich

Zurich, 8032, Switzerland

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

- Inability to follow the procedures of the study, e.g. due to language problems or severely reduced health status

Treatment and study plan

Testing of reliability / validity of new questionnaire

Other

Participants will answer new questionnaire and other, established, generic and chronic generic HrQol instruments

Primary outcomes

Reliability/ validity of questionnaire

Time frame: 15 months

Sponsors and collaborators

Lead sponsor

University Children's Hospital, Zurich

Other

Collaborators

Sanofi

Registry information

Official study 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

Acronym: Pompe_HrQol

Important dates

Study start: 2021
Primary completion: 2023
Study completion: 2023
First posted: Jan 26, 2021
Registry last updated: Dec 5, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed