We hope that such new treatments will consist of small molecules that can cross the blood-brain barrier and enter the brain. The approach that will be developed for elucidating the pathogenesis of neuronopathic Gaucher disease is likely to be useful in developing treatments for other lysosomal storage disorders. A lack of benefit is especially apparent in type 3 patients with myoclonic seizures. Gaucher disease have had reductions of spleen and liver enlargment following intravenously injected glucocerebrosidase, but no definitive improvement has occurred with regard to the pathologic involvement of the brain. The primary reason for this lack of benefit is the inability of the enzyme to reach the brain because of the blood-brain barrier.
Procedures are now under consideration for the direct infusion of glucocerebrosidase into the brain.
The approaches to therapy for Gaucher disease have focused on supplying enzyme to the major involved cells. This enzyme would correct the inherited deficiency in the affected patient. This replenishment strategy includes direct enzyme replacement or various gene therapy approaches to supply sufficient enzyme to digest the accumulated glucosylceramide and other potentially toxic substrates. The goal is to normalize the movement of these compounds through the lysosome. Almost two decades ago Norman Radin proposed an alternative or supplementary strategy to enzyme replenishment by focusing attention on decreasing the amount of substrate that enters the major cells involved by the diseases.