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Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming Cells

NCT00001234 · Status: COMPLETED · Phase: PHASE1 · Type: INTERVENTIONAL · Enrollment: 120

Last updated 2008-03-04

No results posted yet for this study

Summary

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.

Conditions

  • Gaucher's Disease

Interventions

GENETIC

human glucocerebrosidase cDNA

Sponsors & Collaborators

  • National Institute of Neurological Disorders and Stroke (NINDS)

    lead NIH

Study Design

Purpose
TREATMENT

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
1988-01-31
Completion
2002-04-30

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00001234 on ClinicalTrials.gov