Chengdu, November 9th (Reporter Wang Peng) - Sichuan University West China Hospital announced on the 9th that the hospital has recently launched the first clinical research project on recombinant adeno-associated virus (rAAV) gene drugs for the treatment of Fabry disease in China and completed the first patient treatment. Fabry's disease is a rare X-linked inherited lysosomal accumulation disease, with male patients having multiple conditions than female patients. The research shows that the incidence rate of male newborns is 1/11000-1/40000, and its cause is α- Mutations in the galactosidase A gene, as well as structural and functional abnormalities in the gene product, result in the accumulation of metabolic substrate sphingosine trimethylhexoside and related glycosphingolipids in nerve and vascular tissue cells of various organs such as the heart, kidney, lung, eye, brain, and skin, leading to ventricular hypertrophy, renal failure, stroke, peripheral neuropathy, and other diseases. Cardiomyopathy is the main cause of death in patients. The traditional treatment plan for Fabry's disease is enzyme replacement therapy, where patients need to receive an infusion of agarase every two weeks and receive lifelong treatment. The patient Yan, who participated in this clinical study, is 24 years old and was diagnosed through genetic testing two years ago. After diagnosis, due to the high cost of enzyme replacement therapy, it has not received treatment. It was not until enzyme replacement therapy entered medical insurance that Yan began receiving biweekly intravenous infusion treatment, but frequent hospitalization brought great inconvenience to his life. Recently, Yan applied to become the first gene therapy volunteer. After strict screening, preparation, and examination before treatment, Yan received gene drug treatment on October 26 of this year. In subsequent observations, Yan stated that there was no discomfort. The subsequent detection of galactosidase activity showed that Yan's galactosidase activity in his body had reached normal human levels. Currently, Yan's physical condition is still under close monitoring by researchers. This clinical research project is led by Professor Chen Yucheng, Director of the Internal Medicine Department and Deputy Director of the Rare Disease Diagnosis, Treatment and Research Center of West China Hospital of Sichuan University, and is jointly carried out by six tertiary hospitals in China. The research drug ZS805 was led by Professor Dong Biao and Professor Zou Kaier from the National Key Laboratory of Biotherapy at West China Hospital of Sichuan University. Professor Dong Biao introduced that the gene expression box framework of ZS805 is equipped with a self-developed liver specific promoter and genetic engineering optimization α- Galactosidase A gene, ensuring α- The galactosidase A protein is specifically expressed and efficiently secreted in liver cells, improving the safety and efficacy of the drug. At the same time, AAV carrier serotypes that can cover the vast majority of patients were also selected, improving the product's future wide applicability. It is reported that the future release of this genetic drug is expected to achieve "one shot treatment, long-term and even lifelong effectiveness" for Fabry disease, bringing hope for cure for the vast number of patients suffering from Fabry disease. (New News Agency)
Edit：GuoGuo Responsible editor：FangZhiYou
Source：people.cn
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