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

NCT04724213 | Completed

• 1 other identifier: Pompe_HrQol
• Study Type: interventional
• Target: 101
• Locations: 1 country
• Sites: 1

Brief 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. 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

Outcome Measures

Primary Outcomes (1)

• Reliability/ validity of questionnaire

  15 months

Study Arms (1)

Testing of reliability / validity of new questionnaire

OTHER

Other: Testing of reliability / validity of new questionnaire

Interventions

Testing of reliability / validity of new questionnaire OTHER

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

Testing of reliability / validity of new questionnaire

Eligibility Criteria

• Age: 8 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• University Children's Hospital, Zurich: lead
• Sanofi: collaborator

Study Sites (1)

University Childrens Hospital Zürich

Zurich, 8032, Switzerland

Location

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Condition Hierarchy (Ancestors)

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

Study Officials

• Martina Huemer, Prof dr

  University Childrens Hospital Zurich

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 20, 2021
• First Posted: January 26, 2021
• Study Start: July 1, 2021
• Primary Completion: December 1, 2023
• Study Completion: December 1, 2023
• Last Updated: December 5, 2023

Record last verified: 2023-12

Data Sharing

• IPD Sharing: Will not share

Locations

CH (1)