NCT00001410

A Phase I and II Study of PEG-Glucocerebrosidase in Patients With Type 1 or Type 3 Gaucher Disease

Completed Phase 1 Last updated 3 March 2008

What this trial tests

Phase 1 trial testing Lysodase in Gaucher's Disease in 18 participants. Completed in 1 December 2001.

Timeline

1 October 1993

1 December 2001

Quick facts

Lead sponsor	National Institute of Mental Health (NIMH)
Phase	Phase 1
Status	Completed
Study type	INTERVENTIONAL
Primary purpose	treatment
Enrollment	18
Start date	1 October 1993
Estimated completion	1 December 2001
Sites	1 location across United States

Drugs / interventions tested

• Lysodase — full drug profile →

Conditions studied

• Gaucher's Disease — all drugs for Gaucher's Disease →

Sponsor

National Institute of Mental Health (NIMH)

Who can join

Eligibility, any sex, with Gaucher's Disease. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

No peer-reviewed publications indexed yet for this trial. Completed trials usually publish results within 12-18 months.