Ignite Creation Date:
2024-05-05 @ 10:17 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001289
Status:
COMPLETED
Last Update Posted:
2017-07-02
First Post:
1999-11-03
Brief Title:
Effects of 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:
Clinical and Biochemical Effects of Macrophage-Targeted Glucocerebrosidase on Neurological Involvement in Neuronopathic Gauchers Disease
Status:
COMPLETED
Status Verified Date:
2008-03-03
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:
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 There are actually three types of Gauchers disease
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
Type II appears in infancy and usually results in death for the patient Type II is an acute neuronopathic form and can affect the brain stem It is the most severe form of the disease
Type III 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
The purpose of this study is to examine the effects of enzyme replacement therapy on patients with Gauchers disease specifically those types directly affecting the nervous system neuronopathic
Patients with Gauchers disease types II and III will be selected to participate in the study and receive enzyme replacement therapy Patients participating will undergo a variety of tests to measure levels of hemoglobin concentration liver volume and spleen volume Improvements in these measures will be compared other laboratory tests measuring the involvement of the nervous system
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
Type II appears in infancy and usually results in death for the patient Type II is an acute neuronopathic form and can affect the brain stem It is the most severe form of the disease
Type III 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
The purpose of this study is to examine the effects of enzyme replacement therapy on patients with Gauchers disease specifically those types directly affecting the nervous system neuronopathic
Patients with Gauchers disease types II and III will be selected to participate in the study and receive enzyme replacement therapy Patients participating will undergo a variety of tests to measure levels of hemoglobin concentration liver volume and spleen volume Improvements in these measures will be compared other laboratory tests measuring the involvement of the nervous system
Detailed Description:
The purpose of this study is to examine the effects of enzyme replacement therapy in patients with neuronopathic Gauchers disease and to investigate the pathogenesis of their neurological signs and symptoms Macrophage-targeted glucocerebrosidase will be administered by intravenous infusion under the supervision of the patients private physician at an initial dosage of 60 to 120 IU per kg of body weight weekly or every other week Patients will be categorized as treatment responders if they display a clinically significant increase in hemoglobin concentration and a reduction in hepatic or splenic volume Improvement in these parameters over time will be correlated with measurements for metabolic encephalopathy and radiologic electrophysiologic and psychometric measurements of neurological involvement
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 |
|---|---|---|---|
| 91-N-0225 | None | None | None |