Ignite Creation Date:
2024-05-05 @ 10:23 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001416
Status:
COMPLETED
Last Update Posted:
2016-09-22
First Post:
1999-11-03
Brief Title:
Bone Response to Enzyme Replacement in Gauchers Disease
Sponsor:
National Institute of Neurological Disorders and Stroke NINDS
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Skeletal Responses to Macrophage-Targeted Glucocerebrosidase in Patients With Type 1 Gauchers Disease
Status:
COMPLETED
Status Verified Date:
2016-09
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
The purpose of this study is to examine how the skeleton responds to repeated doses of enzyme replacement therapy in patients with type I Gauchers 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 Gauchers 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
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 Gauchers 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
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 Gauchers 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 IUkg q2wks 0-6 months
CEREDASE Trademark 30 IUkg q2wks 7-24 months
Group 2 Calcitriol 025-30 microgramsday 0-24 months
CEREDASE Trademark 60 IUkg q2wks 7-12 months
CEREDASE Trademark 30 IUkg q2wks 13-24 months
Group 3 Calcitriol 025-30 microgramsday 0-24 months
CEREDASE Trademark 60 IUkg q2wks 0-6 months
CEREDASE Trademark 30 IUkg 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
Group 1 CEREDASE Trademark 60 IUkg q2wks 0-6 months
CEREDASE Trademark 30 IUkg q2wks 7-24 months
Group 2 Calcitriol 025-30 microgramsday 0-24 months
CEREDASE Trademark 60 IUkg q2wks 7-12 months
CEREDASE Trademark 30 IUkg q2wks 13-24 months
Group 3 Calcitriol 025-30 microgramsday 0-24 months
CEREDASE Trademark 60 IUkg q2wks 0-6 months
CEREDASE Trademark 30 IUkg 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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 94-N-0050 | None | None | None |