Journal article
Successful ex vivo gene therapy directed to liver in a patient with familial hypercholesterolaemia
Nature genetics, Vol.6(4), pp.335-341
04/1994
DOI: 10.1038/ng0494-335
PMID: 8054972
Abstract
An ex vivo approach to gene therapy for familial hypercholesterolaemia (FH) has been developed in which the recipient is transplanted with autologous hepatocytes that are genetically corrected with recombinant retroviruses carrying the LDL receptor. We describe the treatment of a 29 year old woman with homozygous FH by ex vivo gene therapy directed to liver. She tolerated the procedures well and in situ hybridization of liver tissue four months after therapy revealed evidence for engraftment of transgene expressing cells. The patient's LDL/HDL ratio declined from 10−13 before gene therapy to 5−8 following gene therapy, improvements which have remained stable for the duration of the treatment (18 months). This represents the first report of human gene therapy in which stable correction of a therapeutic endpoint has been achieved. © 1994 Nature Publishing Group.
Details
- Title: Subtitle
- Successful ex vivo gene therapy directed to liver in a patient with familial hypercholesterolaemia
- Creators
- Mariann Grossman - University of Michigan–Ann ArborSteven E. Raper - University of Michigan–Ann ArborKaren Kozarsky - University of Michigan–Ann ArborEvan A. Stein - Christ HospitalJohn F. Engelhardt - University of Michigan–Ann ArborDavid MullerPaul J. Lupien - Université LavalJames M. Wilson - University of Michigan–Ann Arbor
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.6(4), pp.335-341
- DOI
- 10.1038/ng0494-335
- PMID
- 8054972
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Language
- English
- Date published
- 04/1994
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Anatomy and Cell Biology; Radiation Oncology; Internal Medicine
- Record Identifier
- 9984284355802771
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