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Case Reports
. 1994 Apr;6(4):335-41.
doi: 10.1038/ng0494-335.

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

M Grossman  1 , S E Raper, K Kozarsky, E A Stein, J F Engelhardt, D Muller, P J Lupien, J M Wilson
Affiliations
Case Reports

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

M Grossman et al. Nat Genet. 1994 Apr.

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.

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Comment in

  • Gene therapy for cholesterol.
    Brown MS, Goldstein JL, Havel RJ, Steinberg D. Brown MS, et al. Nat Genet. 1994 Jul;7(3):349-50. doi: 10.1038/ng0794-349. Nat Genet. 1994. PMID: 7920651 No abstract available.
  • A small step for gene therapy.
    [No authors listed] [No authors listed] Nat Genet. 1994 Apr;6(4):323-4. doi: 10.1038/ng0494-323. Nat Genet. 1994. PMID: 8054965 No abstract available.
  • Heroic gene surgery.
    Weatherall D. Weatherall D. Nat Genet. 1994 Apr;6(4):325-6. doi: 10.1038/ng0494-325. Nat Genet. 1994. PMID: 8054966 No abstract available.

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