Canada's first use of gene therapy for Fabry disease

Release date: 2017-03-20

Fabry, or α-galactosidase A (a lysosomal hydrolase) deficiency, is a rare genetic disorder caused by genetic abnormalities on the X chromosome. Due to the defect of the gene responsible for the production of α-galactosidase A in the body, the metabolism of glycosphingolipids in the body is hindered, and it accumulates in the cytoplasm and the solution, causing multiple organ diseases such as kidney, heart and brain, which may cause death in severe cases. The total number of patients with Fabry disease worldwide is about 5,000, and about 420 in Canada.

Researchers at the University of Calgary, Calgary, Canada, have collected a number of blood stem cells from Fabry patients in clinical trials, using a specially designed virus to increase the number of stem cells, and these increased stem cell replication. A fully functional gene responsible for the production of alpha-galactosidase A in the body, and these altered stem cells are successfully transplanted back into the patient. The team is considered to be the first team in the world to use gene therapy to treat Fabry disease.

Gene therapy has been used to treat cancer in Canada, but the study is considered to be the first time in Canada to use genetic therapy to treat hereditary metabolic disorders. The treatment, approved by the Health Canada, is the first clinical trial of the use of lentivirus in gene therapy in Canada. In this case, the specially modified virus was stripped of the pathogenic ability, but was able to replicate the number of genes that produced the missing enzyme.

Researchers have shown that the therapy works in mice, but successful animal testing does not mean success in human trials. Even if the improvement in enzyme levels can bring light to the patient, the effect will depend on the results after a few months.

Source: Ministry of Science and Technology

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