PEG-Glucocerebrosidase for the Treatment of Gaucher Disease
Status:
Completed
Trial end date:
2001-12-01
Target enrollment:
Participant gender:
Summary
Gaucher disease is a lysosomal storage disease resulting from glucocerebroside accumulation
in macrophages due to a genetic deficiency of the enzyme glucocerebrosidase. It may occur in
patients of all ages. The condition is marked by enlargement of the liver and spleen
(hepatosplenomegaly), low blood and platelet counts, and bone abnormalities. The condition is
passed from generation to generation on via autosomal recessive inheritance. There are
actually three types of Gaucher disease.
Type I is the most common form. It is a chronic non-neuronopathic form, meaning the disease
does not affect the nervous system. The symptoms of type I can appear at any age.
Type 2 Gaucher disease presents prenatally or in infancy and usually results in death for the
patient. Type 2 is an acute neuronopathic form and can affect the brain stem. It is the most
severe form of the disease.
Type 3 Gaucher disease is also neuronopathic, however it is subacute in nature. This means
the course of the illness lies somewhere between long-term (chronic) and short-term (acute).
Currently there is not a cure for Gaucher disease. Treatment for the disease has
traditionally been supportive. In some severely affected patients, bone-marrow transplants
have corrected the enzyme deficiency, but it is considered a high-risk procedure and recovery
can be very slow. Enzyme replacement therapy is another therapy option and has been approved
by the Food and Drug Administration (FDA) for use in type 1 patients.
PEG-glucocerbrosidase is a drug designed to clear out the accumulation of lipid
(glucocerebroside) from the blood stream. The drug is actually an enzyme attached to large
molecules called polyethylene glycol (PEG). The large molecules of PEG allow the enzyme to
remain in the blood stream for long periods of time. By modifying glucocerebrosidase with
PEG, it is believed that smaller doses will be required, meaning a reduction in cost for the
patient and more convenient administration of the drug. The purpose of this study is to
evaluate the effects and safety of enzyme replacement therapy using PEG- glucocerebrosidase
for the treatment of Gaucher disease.