Enzyme therapy for Pompe disease with recombinant human alpha-glucosidase from rabbit milk

Pompe disease is a metabolic myopathy caused by deficiency of lysosomal aci d alpha -glucosidase. In this report we review the first 36 weeks of a clin ical study on the safety and efficacy of enzyme therapy aimed at correcting the deficiency. Four patients with infantile Pompe disease were enrolled. They received recombinant human alpha -glucosidase from transgenic rabbit m ilk. The product is generally well tolerated and reaches the primary target tissues. Normalization of alpha -glucosidase activity in skeletal muscle w as obtained and degradation of PAS-positive material was seen in tissue sec tions. The clinical condition of all patients improved. The effect on heart was most significant, with an impressive reduction of the left ventricular mass index (LVMI). Motor function improved. The positive preliminary resul ts stimulate continuation and extension of efforts towards the realization of enzyme therapy for Pompe disease.