Jmp. Van Den Hout et al., Enzyme therapy for Pompe disease with recombinant human alpha-glucosidase from rabbit milk, J INH MET D, 24(2), 2001, pp. 266-274
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.