title: [Gene therapy for Gaucher disease].
abstract: Gaucher disease is a lysosomal storage disease which is characterized by deficient activity of lysosomal enzyme, known as glucocerebrosidase. This resulted in progressive accumulation of glucocerebroside only in bone marrow derived macrophages. This unique pathophysiology makes Gaucher disease an excellent candidate of gene therapy based on transferring therapeutic gene to hematopoietic stem cell. The extensive study based on transferring therapeutic gene to hematopoietic stem cell. The extensive study was already done using mouse in vivo system and human in vitro system. In mouse system, all of the macrophages from long term reconstituted mice were transduced. In human system, 40 approximately 60% of bone marrow progenitor cells were transduced. Because of this success, the clinical protocol for gene therapy for Gaucher disease was approved by RAC and FDA. The clinical trial was started in this year. The brief history of development and current limitation of gene therapy for Gaucher disease were discussed.
authors.affiliation: Jikei University School of Medicine, Department of Pediatrics.
authors.forename: T
authors.initials: T
authors.lastname: Ohashi
mesh_terms: D000818:Animals; D005776:Gaucher Disease / Q000628:therapy*; D015316:Genetic Therapy; D006801:Humans; D051379:Mice