PEG-Glucocerebrosidase for the Treatment of Gaucher Disease

Status Completed

Clinical Trial 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.

Clinical Trial Description

The purpose of this clinical study is to evaluate the biochemical and therapeutic effects and safety of enzyme replacement therapy using polyethyleneglycol (PEG) modified glucocerebrosidase for the treatment of Gaucher disease and to evaluate the benefit to risk ratio. The study is designed to determine the safety and efficacy in Gaucher patients of recombinantly produced human glucocerebrosidase, which is PEG modified. Parameters to be monitored include hemoglobin, platelet counts, organ size, and extent of bony involvement. Pharmacokinetic, pharmacodynamic, and antibody studies will also be evaluated. ;

Study Design

Endpoint Classification: Safety Study, Primary Purpose: Treatment

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT00001410
Study type	Interventional
Source	National Institutes of Health Clinical Center (CC)
Contact
Status	Completed
Phase	Phase 1
Start date	October 1993
Completion date	December 2001

View Details

See also
Status	Clinical Trial	Phase
Completed	`NCT00001289` - Effects of Enzyme Replacement in Gaucher's Disease	N/A
Completed	`NCT00004488` - Phase II Randomized Study of Alendronate Sodium for Osteopenia in Patients With Gaucher's Disease	Phase 2
Recruiting	`NCT00004293` - Phase II Study of Glucocerebrosidase in Patients With Gaucher Disease	Phase 2
Completed	`NCT00004294` - Phase I Study of Retrovirally Mediated Transfer of the Human Glucocerebrosidase Gene Into Peripheral Blood Stem Cells for Autologous Transplantation in Patients With Type I Gaucher Disease	Phase 1
Completed	`NCT04656600` - Study to Evaluate Efficacy and Safety of Imiglucerase Treatment in Chinese Patients With Gaucher Disease Type Ⅲ	Phase 4
Completed	`NCT01427517` - Intravenous N-acetylcysteine for the Treatment of Gaucher's Disease and Parkinson's Disease	Phase 1
Completed	`NCT00176904` - Stem Cell Transplant for Inborn Errors of Metabolism	Phase 2/Phase 3
Completed	`NCT00001234` - Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming Cells	Phase 1
Completed	`NCT06188325` - A Study to Evaluate Pharmacokinetic Parameters of Eliglustat in Healthy Volunteers Who Are CYP2D6 Extensive or Poor Metabolizers	Phase 1
Completed	`NCT00001416` - Bone Response to Enzyme Replacement in Gaucher's Disease	Phase 2
Completed	`NCT06193304` - A Study to Evaluate Pharmacokinetic Parameters and Safety of Eliglustat Absorption Through the Mouth	Phase 1
Active, not recruiting	`NCT00005900` - Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation	N/A
Completed	`NCT01586455` - Human Placental-Derived Stem Cell Transplantation	Phase 1

Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.