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Bone Response to Enzyme Replacement in Gaucher's Disease

This study has been completed.
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: November 3, 1999
Last updated: September 21, 2016
Last verified: September 2016

The purpose of this study is to examine how the skeleton responds to repeated doses of enzyme replacement therapy in patients with type I Gaucher's disease who have had their spleens removed.

Gaucher disease is a lysosomal storage disease resulting from glycocerebroside accumulation in macrophages due to a genetic deficiency of the enzyme glucocerebrosidase. It may occur in adults but occurs most severely in infants, in whom cerebroside also accumulates in neurons. Patients with Gaucher's disease experience enlargement of the liver and spleen and bone destruction. The condition is passed from generation to generation through autosomal recessive inheritance.

Type I is the most common form. It is a chronic non-neuronopathic form, meaning the disease does not affect nerve cells. The symptoms of type I can appear at any age.

In this study patients will be divided into three groups. Each group will receive different doses of enzyme replacement (Ceredase). In addition, two of the three groups will also receive doses of a form of vitamin D (calcitriol). Researchers believe the groups receiving vitamin D will have an improved response as compared to those patients only receiving enzyme replacement.

Patients in each group who respond to enzyme replacement with increases in bone density will be compared to the other treatment groups.

Condition Intervention Phase
Gaucher's Disease
Phase 2

Study Type: Interventional
Study Design: Primary Purpose: Treatment
Official Title: Skeletal Responses to Macrophage-Targeted Glucocerebrosidase in Patients With Type 1 Gaucher's Disease

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 100
Study Start Date: December 1993
Estimated Study Completion Date: November 2000
Detailed Description:

The purpose of this study is to examine the response of the skeleton to repeated infusions of macrophage-targeted glucocerebrosidase (CEREDASE (Trademark) ) in splenectomized patients with type I Gaucher's disease. The magnitude and rate of development of the skeletal response will be monitored non-invasively. Theoretically, an enhanced response should occur in patients supplemented with pharmacologic doses of 1, 25-dihydroxyvitamin D3 (calcitriol), since calcium absorption and enzyme delivery to bone marrow macrophages should be increased in this setting. These issues will be addressed in a clinical trial that uses a modified factorial design. A total of 57 patients will be assigned to three treatment groups by block randomization.

Group 1: CEREDASE (Trademark) (60 IU/kg q2wks; 0-6 months)

CEREDASE (Trademark) (30 IU/kg q2wks; 7-24 months)

Group 2: Calcitriol (0.25-3.0 micrograms/day; 0-24 months)

CEREDASE (Trademark) (60 IU/kg q2wks; 7-12 months)

CEREDASE (Trademark) (30 IU/kg q2wks; 13-24 months)

Group 3: Calcitriol (0.25-3.0 micrograms/day; 0-24 months)

CEREDASE (Trademark) (60 IU/kg q2wks; 0-6 months)

CEREDASE (Trademark) (30 IU/kg q2wks; 7-24 months)

The number of patients responding to enzyme replacement with a significant decrease in hepatic volume and a significant increase in trabecular bone density of the lumbar spine will be compared between the treatment groups.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Splenectomized Gaucher patients.

Aged 18-45 who have not received enzyme therapy for at least 1 year.

No patients with other illnesses (pulmonary, liver, kidney, bone, hematologic).

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Please refer to this study by its identifier: NCT00001416

United States, Maryland
National Institute of Neurological Disorders and Stroke (NINDS)
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Institute of Neurological Disorders and Stroke (NINDS)
  More Information

Publications: Identifier: NCT00001416     History of Changes
Other Study ID Numbers: 940050
Study First Received: November 3, 1999
Last Updated: September 21, 2016

Keywords provided by National Institutes of Health Clinical Center (CC):
Bone Disease
Enzyme Replacement Therapy
Gaucher's Disease
Vitamin D

Additional relevant MeSH terms:
Gaucher Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders processed this record on May 25, 2017