Cardiopulmonary exercise test to quantify enzyme replacement response in pediatric Pompe disease.

ABSTRACT

INTRODUCTION: Enzyme replacement therapy (ERT) with Myozyme improved the prospect of Pompe disease patients. Our aim was to evaluate ERT acute effect on exercise capacity in pediatric Pompe patients. METHODS: Five Pompe patients (10-19 years, 4 infantile-onset and 1 diagnosed at 5 years) were evaluated before and 2 days after ERT using cardiopulmonary exercise testing (CPET), 6 min walking test (6MWT) and motor function test (GMFM-88). RESULTS: Preserved normal peak oxygen uptake, 6MWT and motor function were observed in the relative mild disease and impairment of these parameters in the more advanced disease. Two days following ERT, three patients demonstrated changes; one patient (relative mild disease) increased both oxygen uptake (11%) and walking distance (38%). Second patient (advanced disease) increased oxygen uptake (11%) while a small decrease in walking distance in the 6MWT (8%) was observed. Third patient (advanced disease) decreased oxygen uptake (39%) but increased walking distance (42%) and motor function score (27%). CONCLUSIONS: CPET is safe for pediatric Pompe patients. ERT may benefit exercise capacity in patients with less advanced disease. Individualized assessment by CPET, 6MWT, and motor function may help ERT adjustment by providing precise quantification of the response to treatment. Additional studies are needed to clarify the benefit of this assessment protocol.