Trial reportNature medicine1995
A pilot study of ex vivo gene therapy for homozygous familial hypercholesterolaemia.
Trial report in Nature medicine, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 138 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
138 citing papers in PubMed, 1 synthesis or guideline pooled it, 534 citations in OpenAlex.
- The promising novel therapies for familial hypercholesterolemia.Journal of clinical laboratory analysis · 2022Pooled it
- Safety and feasibility of liver-directed ex vivo gene therapy for homozygous familial hypercholesterolemia.Annals of surgery · 1996Trial
- Gene therapy and genome editing for lipoprotein disorders.European heart journal · 2025Review
- One Shock, Not One Cure: Electroporation Reveals Disease-Specific Constraints in Hepatocyte Gene Editing Therapy.Biology · 2025Article
- Gene Therapy Approaches for Atherosclerosis Focusing on Targeting Lipid Metabolism and Inflammation.International journal of molecular sciences · 2025Review
- The deLIVERed promises of gene therapy: Past, present, and future of liver-directed gene therapy.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Review
- Progress in Gene Therapy for Hereditary Tyrosinemia Type 1.Pharmaceutics · 2025Review
- Homozygous Familial Hypercholesterolemia Treatment: New Developments.Current atherosclerosis reports · 2025Review
- Review
- Established and Emerging Nucleic Acid Therapies for Familial Hypercholesterolemia.Circulation · 2024Review
- Human Hepatocyte Transplantation: Three Decades of Clinical Experience and Future Perspective.Stem cells translational medicine · 2024Review
- Dyslipidemia: A Narrative Review on Pharmacotherapy.Pharmaceuticals (Basel, Switzerland) · 2024Review
- Review
- [Progress in basic research and clinical application of hepatocyte transplantation].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2023Review
- Gene transfer and genome editing for familial hypercholesterolemia.Frontiers in molecular medicine · 2023Review
- Improved extracellular vesicle-based mRNA delivery for familial hypercholesterolemia treatment.Theranostics · 2023Article
- Cellular Therapies in Pediatric Liver Diseases.Cells · 2022Review
- Advancements in the Treatment of Homozygous Familial Hypercholesterolemia.Journal of atherosclerosis and thrombosis · 2022Review
- Development ofFrontiers in immunology · 2022Article
- The Progression of Treatment for Refractory Hypercholesterolemia: Focus on the Prospect of Gene Therapy.Frontiers in genetics · 2022Review
78 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
10 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The outcome of the first pilot study of liver-directed gene therapy is reported here. Five patients with homozygous familial hypercholesterolaemia (FH) ranging in age from 7 to 41 years were enrolled; each patient tolerated the procedure well without significant complications. Transgene expression was detected in a limited number of hepatocytes of liver tissue harvested four months after gene transfer from all five patients. Significant and prolonged reductions in low density lipoprotein (LDL) cholesterol were demonstrated in three of five patients; in vivo LDL catabolism was increased 53% following gene therapy in a receptor negative patient, who realized a reduction in serum LDL equal to approximately 150 mg dl-1. This study demonstrates the feasibility of engrafting limited numbers of retrovirus-transduced hepatocytes without morbidity and achieving persistent gene expression lasting at least four months after gene therapy. The variable metabolic responses observed following low-level genetic reconstitution in the five patients studied precludes a broader application of liver-directed gene therapy without modifications that consistently effect substantially greater gene transfer.
Indexed as
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.