Abstract
Pompe disease is a metabolic myopathy caused by deficiency of lysosomal acid α-glucosidase. In this report we review the first 36 weeks of a clinical 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 α-glucosidase from transgenic rabbit milk. The product is generally well tolerated and reaches the primary target tissues. Normalization of α-glucosidase activity in skeletal muscle was obtained and degradation of PAS-positive material was seen in tissue sections. 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 results stimulate continuation and extension of efforts towards the realization of enzyme therapy for Pompe disease.
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Van den Hout, J.M.P., Reuser, A.J.J., de Klerk, J.B.C. et al. Enzyme therapy for Pompe disease with recombinant human α-glucosidase from rabbit milk. J Inherit Metab Dis 24, 266–274 (2001). https://doi.org/10.1023/A:1010383421286
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DOI: https://doi.org/10.1023/A:1010383421286