Clinical consequences of reduced dosing schedule during treatment of a patient with Pompe's disease.

Abstract

Introduction: Pompe's disease is a metabolic myopathy caused by a deficiency of the enzyme alpha-glucosidase. Patients with late-onset Pompe's disease have progressive muscle weakness, which also affects pulmonary function. Since the advent of specific treatment for Pompe's disease, enzyme replacement therapy with alpha-glucosidase, the prognosis of the disease has changed.

Methods: We report the case of the first patient treated in Spain with home therapy, and the effects on her clinical status of a reduction in treatment frequency.

Results: A worsening was seen in the patient's neuromuscular assessment on different scales, after two discontinuations during the patient's usual administration frequency.

Conclusion: It is essential to keep an adequate administration schedule to maintain the clinical benefits of enzyme therapy.