OBJECTIVE: Recent reports warn that the worldwide cell culture capacity is
insufficient to fulfill the increasing demand for human protein drugs.
Production in milk of transgenic animals is an attractive alternative.
Kilogram quantities of product per year can be obtained at relatively low
costs, even in small animals such as rabbits. We tested the long-term
safety and efficacy of recombinant human -glucosidase (rhAGLU) from rabbit
milk for the treatment of the lysosomal storage disorder Pompe disease.
The disease occurs with an estimated frequency of 1 in 40,000 and is
designated as orphan disease. The classic infantile form leads to death at
a median age of 6 to 8 months and is diagnosed by absence of
alpha-glucosidase activity and presence of fully deleterious mutations in
the alpha-glucosidase gene. Cardiac hypertrophy is characteristically
present. Loss of muscle strength prevents infants from achieving
developmental milestones such as sitting, standing, and walking. Milde