acid maltase deficiency glycogen storage disease type 2 Pompe Disease
Conditions
Interventions
None listed
Sponsors
Erasmus MC, Universitair Medisch Centrum Rotterdam
Eligibility
Age
No minimum to 99 Years
Inclusion criteria
Inclusion criteria: All patients and/or their parents/legal guardian who have signed the IPA/ Erasmus MC Pompe Survey patient information and authorization form and have a confirmed diagnosis of Pompe disease are eligible for inclusion.
Exclusion criteria
Exclusion criteria: none
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Effect of treatment with enzyme replacement therapy, quality of life, clinical course For patients older than 16: Pompe's disease specific questionnaire, Rotterdam 9-item Handicap scale, Fatigue severity scale, SF-36v2 quality of life questionnaire, Rash-built Pompe-specific Activity Scale, EQ-5D and VAS. For patients younger than 16:Pompe's disease specific questionnaire,CHAQ en PedsQL (generic, neuromuscular and fatigue module). For alle of these questionnaires there will be a parent and child version available. | — |
Countries
Netherlands
Contacts
Public ContactM.E. Kruijshaar
The survey is a joint collaboration between the International Pompe Association and Erasmus MC
Outcome results
None listed