SWORD: A simplified desensitization protocol for enzyme replacement therapy in adult Pompe disease

Neuromuscular disorders Jan16Pompe disease is an inherited lysosomal disease in which there is a decrease or absence of acid alpha-glucosidase activity. This enzyme defect induces glycogen storage in different tissues, especially muscle and heart, resulting in muscle weakness, respiratory failure and heart disease. Substitutive enzyme replacement therapy (ERT) dispensed every two weeks is the only treatment that has shown benefits. However, this treatment induces hypersensitivity for half of the treated patients. Considering the lack of therapeutic alternatives and the proven benefit of ERT, desensitization finds its place here. This study reports the case of a patient for whom a simplified desensitization protocol (“SWORD”: Start With One Regular Drop) was successfully achieved, allowing ERT to be pursued, resulting eventually in clinical improvement.

Gallay L, Petiot P, Durieu I, Streichenberger N, Berard F. SWORD: A simplified desensitization protocol for enzyme replacement therapy in adult Pompe disease. Neuromuscul Disord. 2016 Nov;26(11):801-804.