Effects and health economic aspects of enzyme therapy in children and adults with Pompe disease

Trial details

Who runs it

Erasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)

Trial code

EU 2024-518269-92-00

Record updated

2024. december 16.

Original description

• 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 adultsRead full original descriptionShow less

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

• 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

Inclusion: 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).

Exclusion: Cases who are not likely to benefit from treatment.

EU CTIS 2024-518269-92-00