Document Detail


In vivo gene transfer strategies to achieve partial correction of von Willebrand disease.
MedLine Citation:
PMID:  22482515     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
von Willebrand disease (VWD), the most common hereditary coagulation disorder, results from mutations in the 52-exon gene for von Willebrand factor (VWF), which encodes an 8.4-kB cDNA. Studies with VWF cDNA plasmids have demonstrated that in vivo gene transfer to the liver will correct the coagulation dysfunction in VWF(-/-) mice, but the correction is transient. To develop gene therapy for VWF that would mediate long-term expression of the VWF cDNA in liver, we first evaluated segmental pre-mRNA trans-splicing (SPTS) with two adeno-associated virus (AAV) serotype 8 vectors, each delivering one-half of the VWF cDNA. However, although the two vectors functioned well to generate VWF multimers after infection of cells in vitro, the efficiency of SPTS was insufficient to correct the VWF(-/-) mouse in vivo. As an alternative, we assessed the ability of a lentiviral vector to transfer the intact murine VWF cDNA in vivo directly to the neonatal liver of VWF(-/-) mice, using generation of VWF multimers, bleeding time, and bleeding volume as efficacy parameters. The VWF lentivirus generated VWF multimers and partially or completely corrected the coagulation defect on a persistent basis in 33% of the treated VWF-deficient mice. On the basis of the concept that partial persistent correction with gene transfer could be beneficial in VWD patients, these observations suggest that lentiviral delivery of VWF cDNA should be explored as a candidate for gene therapy in patients with a severe form of VWD.
Authors:
Lan Wang; Jonathan B Rosenberg; Bishnu P De; Barbara Ferris; Rui Wang; Stefano Rivella; Stephen M Kaminsky; Ronald G Crystal
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2012-06-25
Journal Detail:
Title:  Human gene therapy     Volume:  23     ISSN:  1557-7422     ISO Abbreviation:  Hum. Gene Ther.     Publication Date:  2012 Jun 
Date Detail:
Created Date:  2012-07-12     Completed Date:  2012-12-03     Revised Date:  2013-04-16    
Medline Journal Info:
Nlm Unique ID:  9008950     Medline TA:  Hum Gene Ther     Country:  United States    
Other Details:
Languages:  eng     Pagination:  576-88     Citation Subset:  IM    
Affiliation:
Department of Genetic Medicine, Weill Cornell Medical College, New York, NY 10065, USA.
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MeSH Terms
Descriptor/Qualifier:
Animals
Dependovirus / genetics
Genetic Therapy*
Genetic Vectors / genetics
Immunohistochemistry
Liver / pathology
Mice
Mice, Knockout
von Willebrand Diseases / genetics,  therapy*
Grant Support
ID/Acronym/Agency:
R01 HL102449/HL/NHLBI NIH HHS; R01 HL102449/HL/NHLBI NIH HHS; T32 HL094284/HL/NHLBI NIH HHS; U01 HL66952/HL/NHLBI NIH HHS

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