Effects and health economic aspects of enzyme therapy in children and adults with Pompe disease. Long-term follow-up of patients receiving commercially available Myozyme

Effects and health economic aspects of enzyme therapy in children and adults with Pompe disease. Long-term follow-up of patients receiving commercially available Myozyme - not applicable

Status

Recruiting

Phases

Unknown

Study type

Interventional

Source

NL-OMON

Registry ID

NL-OMON47930

Enrollment

152

Registered

2007-04-10

Start date

2007-06-22

Completion date

Unknown

Last updated

2025-09-15

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

acid maltase deficiency glycogenosis type II

Interventions

All patients who participate in the study will receive Myozyme. Myozyme is a registered (orphan)drug for treatment of all patients with Pompe disease. Patients will come once every 2 weeks to the Er

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: 1. Patients should have a proven diagnosis of Pompe disease, which means that the diagnosis is confirmed by deficiency of a-glucosidase activity in leukocytes or skeletal muscle, or by a documented mutation in the a-glucosidase gene. 2. The patient must have symptoms of Pompe disease being: Signs of skeletal muscle weakness, or decreased pulmonary function (FVC

Exclusion criteria

Exclusion criteria: 1. Patients who are not likely to benefit from treatment 2. Patients participating in the substudy on exercise training should not be involved in another exercise program 3. Patients participating in the substudy on the function of the diaphragm investigated by MRI and spirometry should not use mechanical ventilation in daytime or have metal objects in their body. 4. Patients and healthy controls, who will undergo MRI of brain and muscles (substudy on the involvement of the central or peripheral nervous system) should not have metal objects in their body.

Design outcomes

Primary

Measure	Time frame
- Survival - Muscle strength and function - Motor and mental outcome - Pulmonary function - Cardiac hypertrophy and function - Hearing loss - Disease specific symptoms, handicap, quality of life and fatigue - Muscle mass and regeneration - Costs - Enzyme activity in dried blood spots - Health damage at diagnosis - Attitude health care workers towards newborn screening for Pompe disease - Aortic stifness, pulse wave velocity, distensibility and intima-media thickness - Function and strength of the diaphragm - Thickness of the diaphragm - Modifying factors - IQ - neuropsychological function tests - Brain MRI - Muscle MRI/ultrasound - EMG findings - Prevalence of cardiovascular morbidity - Risk factors for cardiovascular morbidity	—

Measure

Time frame

- Survival - Muscle strength and function - Motor and mental outcome - Pulmonary function - Cardiac hypertrophy and function - Hearing loss - Disease specific symptoms, handicap, quality of life and fatigue - Muscle mass and regeneration - Costs - Enzyme activity in dried blood spots - Health damage at diagnosis - Attitude health care workers towards newborn screening for Pompe disease - Aortic stifness, pulse wave velocity, distensibility and intima-media thickness - Function and strength of the diaphragm - Thickness of the diaphragm - Modifying factors - IQ - neuropsychological function tests - Brain MRI - Muscle MRI/ultrasound - EMG findings - Prevalence of cardiovascular morbidity - Risk factors for cardiovascular morbidity

—

Secondary

Measure	Time frame
Core stability Pulmonary abnormalities Body composition Overall fitness	—

Countries

Netherlands

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP)