Ignite Creation Date:
2024-05-05 @ 11:22 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001234
Status:
COMPLETED
Last Update Posted:
2008-03-04
First Post:
1999-11-03
Brief Title:
Gene Therapy for Gauchers and Fabry Disease Using Viruses and Blood-Forming Cells
Sponsor:
National Institute of Neurological Disorders and Stroke NINDS
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Retroviral-Mediated Transfer and Expression of Glucocerebrosidase and Ceramidtrihexosidase a-Galactosidase A cDNAs in Human Hematopoietic Progenitor Cells
Status:
COMPLETED
Status Verified Date:
2002-04
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:
Gauchers disease is a lysosomal storage disease resulting from glycocerebroside GLUCOCEREBROSIDE 1 accumulation in macrophages due to a genetic deficiency of the enzyme glucocerebrosidase It may occur in patients of all ages The most severe form Type 2 Gauchers Disease occurs in infants who die in the first years of life with rapidly progressive neurologic deterioration The condition is passed from generation to generation through autosomal recessive inheritance
Fabrys disease isa genetic disorder X-linked recessive due to the absence of the enzyme a-galactosidase A The disease is characterized by abnormal collections of glycolipids in cells histiocytes within blood vessel walls tumors on the thighs buttocks and genitalia2 decreased sweating tingling sensations in the extremities and cataracts Patients with Fabrys disease die from complications of the kidney heart or brain
Both conditions are caused by the absence of specific enzymes 3 Patients with these conditions are missing 3 or have defective genes needed for the normal production of these enzymes Studies on the blood-forming cells in bone marrow have lead to gene therapies using retroviruses as vehicles to carry and insert working genes into abnormal or diseased cells
This study is designed to measure the safety and effectiveness of transferring working copies of genes responsible for making missing enzymes into the cells of patients with Gauchers or Fabry disease
Fabrys disease isa genetic disorder X-linked recessive due to the absence of the enzyme a-galactosidase A The disease is characterized by abnormal collections of glycolipids in cells histiocytes within blood vessel walls tumors on the thighs buttocks and genitalia2 decreased sweating tingling sensations in the extremities and cataracts Patients with Fabrys disease die from complications of the kidney heart or brain
Both conditions are caused by the absence of specific enzymes 3 Patients with these conditions are missing 3 or have defective genes needed for the normal production of these enzymes Studies on the blood-forming cells in bone marrow have lead to gene therapies using retroviruses as vehicles to carry and insert working genes into abnormal or diseased cells
This study is designed to measure the safety and effectiveness of transferring working copies of genes responsible for making missing enzymes into the cells of patients with Gauchers or Fabry disease
Detailed Description:
This protocol was developed in order to obtain bone marrow stem cells for ex vivo transduction with retroviruses containing the human glucocerebrosidase gene We continue to enter a small number of patients to this protocol each year Studies with the bone marrow hematopoietic progenitor cells have enabled us to identify the most effective retroviral construct currently available in order to carry out gene therapy trials in patients with Gauchers disease The data revealed that a comparatively simple retroviral construct containing human glucocerebrosidase cDNA driven by the MoLV promoter is highly effective We have obtained approval and initiated a Phase I safety and gene marking investigation in patients with Type I Gauchers Disease
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 |
|---|---|---|---|
| 88-N-0019 | None | None | None |