ALGLUCOSIDASE ALFA for Pompe disease | Glycogenosis type II | Acid maltase deficiency

Inclusion criteria

• {"criterion_text":"- 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.\n- 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).\n- 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.\n- 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\n- The patient must have symptoms of Pompe disease being: \tSigns of skeletal muscle weakness, or \tDecreased pulmonary function (FVC < 80% in sitting position), or \tCardiac hypertrophy\n- Start of treatment has been approved by the “indicatie commissie”\n- 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 criteria

• {"criterion_text":"- Cases who are not likely to benefit from treatment."}

Primary endpoints

• {"endpoint_text":"- Survival\n- Muscle strength and function\n- Motor and mental outcome\n- Pulmonary function\n- Cardiac hypertrophy and function\n- Hearing loss\n- Disease specific symptoms, handicap, quality of life and fatigue\n- Muscle mass and regeneration\n- Costs","definition_or_measurement_approach":""}

Netherlands

Latest Decision Or Authorization Date

16-12-2024

Number Of Sites

1

Number Of Participants

156

Primary sponsor

Full Name

Erasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)

Organisation Type

Hospital/Clinic/Other health care facility

Country Of Registered Address

Netherlands