Pompe Disease
Conditions
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.
Interventions
OTHERTesting of reliability / validity of new questionnaire
Participants will answer new questionnaire and other, established, generic and chronic generic HrQol instruments
Sponsors
Sanofi
University Children's Hospital, Zurich
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
OTHER
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
8 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Reliability/ validity of questionnaire | 15 months |
Countries
Switzerland
Outcome results
None listed