Treatment of infantile Pompe s disease with enzyme replacement therapy in Germany and Austria

Aims: Enzyme replacement therapy (ERT) has been shown to improve the outcome in infantile Pompe disease, but information about mortality and morbidity of patients treated outside clinical trials is still limited.

Methods: We retrospectively analyzed the data of all infants receiving ERT in Germany and Austria between January 2003 and December 2010.

Results: 10 out of 24 patients (42%) died and 4 other (16%) became ventilator-dependent. 7 infants (29%) made no motor progress at all, while 8 (33.5%) achieved free sitting, and 9 (37.5%) gained free walking. Besides the 7 patients (100%) attaining no improvement of motor functions, 4 out of 8 (50%) sitting without support, and 3 out of 9 (33%) walking independently, secondarily worsened and died or became ventilator-dependent. Cardiac hypertrophy reversed after 6 months of ERT in 14 out of 15 patients (93%) for whom echocardiographic data were available, but continued to progress in one (7%), while the shortening fraction remained distinctly reduced (<25%) in 3 (20%). Gastro-esophageal reflux necessitating fundoplication (n=5), swallowing difficulties or failure to thrive requiring gastrostomy tube insertion (n=11), recurrent pneumonias (n=14), port system complications (n=4), anaesthetic-related incidents (n=2), and severe allergic reactions (n=6) were problems frequently encountered.

Conclusion: Despite ERT, infantile Pompe s disease still remains a life-threatening disorder associated with high morbidity and often dismal prognosis.

enzyme replacement therapy - Pompe s disease - metabolic myopathy