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

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.

Study Overview

• Status: Completed
• Conditions: Pompe Disease
• Intervention / Treatment: Other: Testing of reliability / validity of new questionnaire

• Study Type: Interventional
• Enrollment (Actual): 101
• Phase: Not Applicable

Contacts and Locations

Study Locations

• Switzerland
  • Zürich, Switzerland, 8032
    • University Childrens Hospital Zürich

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 8 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Other
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: Testing of reliability / validity of new questionnaire	Other: Testing of reliability / validity of new questionnaire; Participants will answer new questionnaire and other, established, generic and chronic generic HrQol instruments

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Reliability/ validity of questionnaire	15 months

Collaborators and Investigators

• Sponsor: University Children's Hospital, Zurich
• Collaborators: Sanofi
• Investigators: Principal Investigator: Martina Huemer, Prof dr, University Childrens Hospital Zürich

Study record dates

Study Major Dates

• Study Start (Actual): July 1, 2021
• Primary Completion (Actual): December 1, 2023
• Study Completion (Actual): December 1, 2023

Study Registration Dates

• First Submitted: January 20, 2021
• First Submitted That Met QC Criteria: January 25, 2021
• First Posted (Actual): January 26, 2021

Study Record Updates

• Last Update Posted (Actual): December 5, 2023
• Last Update Submitted That Met QC Criteria: December 4, 2023
• Last Verified: December 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Lysosomal Storage Diseases, Nervous System; Glycogen Storage Disease; Glycogen Storage Disease Type II
• Other Study ID Numbers: Pompe_HrQol

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No