A long-term prospective monitoring study of all patients with Pompe Disease. Evaluating natural history, treatment response, disease markers and novel outcome measures.
interventional
N/A
1 country
1
To investigate the progression of Pompe disease over time within predefined age and treatment groups using age-appropriate outcome measures of muscle and pulmonary function.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
Not reported
Date not reportedClick on a node to explore related trials.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
August 4, 2026
Actual (reported)Muscle Function: o Alberta Infant Motor Scale (AIMS) (for age 0-18 months old) o Quick Motor Function test (QMFT) (from age of 1 year old onwards) o Six Minute Walk Test (6MWT) (from age of 5 years old onwards)
Pulmonary Function: o Ventilator-free survival o Forced Vital Capacity (FVC) upright and supine (from age of 5 years old onwards)
Survival
Changes in muscle strength: Manual muscle testing (MMT), Hand-held dynamometry (HHD)
Changes in muscle function: Timed Gait-Stairs-Gower’s-Chair (GSGC) component tests, assessment of use of wheelchair and walking aids.
Changes in pulmonary function: Maximum Inspiratory Pressure (MIP), Maximum Expiratory Pressure (MEP), Polysomnography, assessment of use of mechanical ventilation.
Changes in patient reported outcome (PRO)-measures (>16 years old): modified Rasch-build Pompe Activity (mR-PAct) scale.
These entries preserve how the registry describes the intervention. Their treatment roles are shown separately from molecular identities.
Formulated product
Opfolda 65 mg hard capsules
The registry describes a specific formulation. Its exact chemical ingredients and approval status require separate evidence.
CAPSULE, HARD
View registry recordThe registry names these ingredients. The formulation’s exact chemical form has not been confirmed.
Opfolda 65 mg hard capsules
Named ingredient: miglustat
View registry recordErasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)
Rotterdam, 3015 GD, Netherlands
Iris Hoogenboom-Plug
First Submitted
August 4, 2026
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Source: European Medicines Agency (EMA), Clinical Trials Information System (CTIS). Original record and public documents are available on CTIS.
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