2024-518269-92-00Not yet recruitingPhase 4
Effects and health economic aspects of enzyme therapy in children and adults with Pompe disease
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
Source: EU CTIS (euclinicaltrials.eu) · Last updated 16 Dec 2024 · Not updated for over 12 months - ask the site whether it is still open
Brief summary (registry, in English)
• Increase knowledge on the long term clinical effects of enzyme replacement therapy and to improve the level of care in children and adults with Pompe disease • Obtain data to support continuation of reimbursement by the Dutch health authorities after the initial 3 years • Assess the economic burden of Pompe disease (inventory of the costs of (medical) care, informal care and loss of productivity) and effects of enzyme therapy on these costs • Improve the efficacy (“doelmatigheid”) of enzyme therapy: • Development of guidelines when to start or stop enzyme therapy; • Should dosing be advised per kg body weight or per kg lean body mass • Safely install enzyme therapy at home • Learn more about atrophy and regeneration capacity of skeletal muscle in children and adults
- Status (registry)
- Not yet recruiting
- Phase (registry)
- Phase 4
- Study type
- Interventional
- Enrollment
- 156 (estimated)
- First submitted
- 15 Oct 2024
- Start date
- 22 Jun 2007
- Lead sponsor
- Erasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)
- Diseases
- Pompe disease
- EU CT number
- 2024-518269-92-00
- EudraCT number
- 2007-001375-11
What you commit to
- Study type: Interventional · Phase 4
- Planned participants: 156
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of EU CTIS (euclinicaltrials.eu). It describes the study design.
AI-kivonat: who the study is looking for
Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.
The trial is looking for children and adults with confirmed Pompe disease who have symptoms and are approved to start enzyme therapy.
- Age
- No age limit. Children under 12 have a different blood-drawing plan.
- Sex
- All sexes can join.
- Disease stage
- Must have symptoms of Pompe disease: weak skeletal muscles, lower lung function (FVC below 80% sitting), or a thickened heart muscle.
- Earlier treatment
- Start of enzyme therapy must have been approved by the "indicatie commissie".
- Biomarker or test result
- Pompe disease confirmed by low α-glucosidase activity in white blood cells, skin cells or muscle, or by a known α-glucosidase gene mutation. A skin biopsy is needed to measure the remaining activity.
Main reasons for not taking part
- People who are not likely to benefit from treatment
Read by machine on 9 Nov 2026.
Who cannot take part
Copied verbatim from EU CTIS (euclinicaltrials.eu) and grouped by topic. Only the trial team decides who can take part.
Other
- Cases who are not likely to benefit from treatment.
Who the study is looking for
- Patients should have a proven diagnosis of Pompe disease, which means that the diagnosis is confirmed by deficiency of α-glucosidase activity in leukocytes, fibroblasts or skeletal muscle, or by a documented mutation in the α-glucosidase gene. A skin biopsy is required to assess the level of residual α-glucosidase activity.
- There is no age limit for participation in the study, but the protocol for children < 12 years of age differs in the amount of blood that will be drawn (appendix 1).
- Patients have had at least one evaluation through which the severity of the disease has been assessed and the urgency of enzyme therapy can be determined. During this evaluation at least pulmonary function and muscle strength and function will be assessed.
- The order in which adult patients with Pompe disease will be enrolled is determined by the “indicatiecommissie” (appendix 2). For patients who show rapid progression of disease or for children the need for enzyme therapy will be discussed on a case by case basis
- The patient must have symptoms of Pompe disease being: Signs of skeletal muscle weakness, or Decreased pulmonary function (FVC < 80% in sitting position), or Cardiac hypertrophy
- Start of treatment has been approved by the “indicatie commissie”
- Written informed consent must be obtained from the patient and/or from the patient's parent/guardian if the patient is under 18 years of age (see section 6.1).
Sex: All · Accepts healthy volunteers
Sites (1)
Sites in registry order. Save your city in your profile to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Erasmus Universitair Medisch Centrum Rotterdam (Erasmus MC) | Rotterdam | Netherlands | Not yet recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.