Successful ex vivo gene therapy directed to liver in a patient with familial hypercholesterolaemia View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1994-04

AUTHORS

Mariann Grossman, Steven E. Raper, Karen Kozarsky, Evan A. Stein, John F. Engelhardt, David Muller, Paul J. Lupien, James M. Wilson

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. More... »

PAGES

335-341

Journal

TITLE

Nature Genetics

ISSUE

4

VOLUME

6

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng0494-335

    DOI

    http://dx.doi.org/10.1038/ng0494-335

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1016499584

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/8054972


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