Pompe's disease
Conditions
Interventions
Based on patients* energy requirement and physical ability to perform exercise,
a personalized lifestyle program will be made. Program duration is 12 weeks. A
combination of endurance, resistance an
Sponsors
Erasmus MC, Universitair Medisch Centrum Rotterdam
Eligibility
Age
18 Years to 64 Years
Inclusion criteria
Inclusion criteria: - Confirmed diagnosis of late onset Pompe disease measured by decreased acid a- glucosidase activity in leukocytes or fibroblasts and also by mutation analysis. - Diagnosis is made at the age of >= 1 years. - Patients are >= 18 years of age. - Patients sign an informed consent prior to participation.
Exclusion criteria
Exclusion criteria: - Any concurrent medical condition interfering with participation in a lifestyle program. - Participation in studies on alternative enzyme replacement therapy. - Treatment with usual care enzyme replacement therapy, (Myozyme ®, Genzyme) for >1 and
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Endurance: highest volume of oxygen uptake during maximal effort performing a cardiopulmonary incremental exercise test (VO2peak in millilitres/kilogram/minute). | — |
Secondary
| Measure | Time frame |
|---|---|
| * Functional endurance: highest workload (Wmax) in Watts during a maximal incremental cardiopulmonary exercise test; 6 minutes walking test in meters. *Muscle strength: hand held dynamometer in Newton; manual muscle testing according to medical research council 0-5* Muscle function: Quick Motor Function Test (QMFT), scores 0-64; timed tests in seconds.* Quality of life: SF-36 questionnaire, scores 0-100; Fatigue Severity Scale, scores 9-63.*Core stability: balancing times in seconds. *Bone mineral density and body composition: by dual energy X-ray absorptiometry: total body mineral, lean, fat and fat-free body mass in kilograms and percentages; Bone mineral density in grams/square foot centimetres. Abdominal, waist, arm and leg circumference and skinfold measurements in centimeters * Energy expenditure: by indirect calorimetry in kilocalories/day.*Muscle morphology: by histologic examination of muscle biopsies; magnetic resonance imaging of muscles (optional). *Physical activity: by ActiGraph activity monitor in activity counts and daily activity percentages.*Respiratory function: by spirometry: forced expiratory volume in one second, forced vital capacity (while sitting and supine) and total lung capacity in litres; mean inspiratory and expiratory pressures in kilo Pascal. *Metabolic state: blood samples on creatine kinase in units/litre, aspartate amino transferase in units/litre, alanine amino transferase in units/litre, creatine in micromole/litre, alkaline phosphatase in units/liter, gamma-glutamyltransferase in units/liter, triglycerides, cholesterol, HDL cholesterol, LDL cholesterol in millimole/litre, glucose in millimole/litre, HbA1c in millimole/mol and insulin in milliunits/litre. | — |
Countries
Netherlands
Outcome results
None listed