Outcomes in Pompe disease

Article Outline

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Pompe disease is a rare autosomal recessive disorder that results in lysosomal and cytoplasmic accumulation of glycogen. Infantile Pompe disease presents with hypotonia, motor delay, feeding difficulties, and respiratory difficulties. Because enzyme replacement therapy may slow the progression of disease or result in a milder course, it is important to understand the natural course of the disease.

In this issue of The Journal, Kishnani et al report on a relatively large series of patients with infantile onset Pompe disease. They found that the mean onset of symptoms was 2 months, but the range was from birth to 1 year of age. The mean age of first ventilator support was 5.9 months and death was 8.7 months of age. However, survival was 25.7% at 1 year of age and was 12.3% at 18 months of age. The earlier onset of symptoms was associated with earlier age at death. Patients were vigorously managed with nutritional and ventilator support, but Pompe disease remains lethal despite this intensive management. This provides a background against which enzyme replacement therapy can be evaluated.