Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming Cells
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|ClinicalTrials.gov Identifier: NCT00001234|
Recruitment Status : Completed
First Posted : November 4, 1999
Last Update Posted : March 4, 2008
Gaucher's 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 Gaucher's 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.
Fabry's 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 genitalia(2) decreased sweating, tingling sensations in the extremities, and cataracts. Patients with Fabry's 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 Gaucher's or Fabry disease.
|Condition or disease||Intervention/treatment||Phase|
|Gaucher's Disease||Genetic: human glucocerebrosidase cDNA||Phase 1|
|Study Type :||Interventional (Clinical Trial)|
|Enrollment :||120 participants|
|Official Title:||Retroviral-Mediated Transfer and Expression of Glucocerebrosidase and Ceramidtrihexosidase (a-Galactosidase A) cDNA's in Human Hematopoietic Progenitor Cells|
|Study Start Date :||January 1988|
|Study Completion Date :||April 2002|
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00001234
|United States, Maryland|
|National Institute of Neurological Disorders and Stroke (NINDS)|
|Bethesda, Maryland, United States, 20892|