A group of Chinese researchers led by Professor Xia Qiang of Shanghai Jiao Tong University has completed Phase I clinical trials of an experimental gene therapy for the treatment of familial hypercholesterolemia, a hereditary disease that causes abnormally high levels of fats in the blood. The results were published in the journal Nature Medicine.
The study involved six volunteers aged 34 to 62 with a confirmed diagnosis. The therapy did not cause dangerous side effects. At the same time, patients showed a significant reduction in the activity of the PCSK9 enzyme (by 74%) and a 52% decrease in “bad” cholesterol (low-density lipoprotein) levels within six months of starting treatment.
The developed method is based on an enzyme from the bacterium Hafnia paralvei, which is naturally used to recognize and neutralize viruses. The scientists modified it to edit human DNA and placed the enzyme molecules into lipid nanoparticles along with RNA templates. These templates guide the gene editor to the mutant version of the PCSK9 gene in liver cells, disabling it and slowing cholesterol production.
The successful completion of Phase I paves the way for larger trials to assess the clinical efficacy of the therapy. Familial hypercholesterolemia is one of the most common hereditary metabolic disorders, significantly increasing the risk of cardiovascular disease at a young age.