抖阴APP导航 is developing gene-cell therapy for Pompe disease
抖阴APP导航 is developing an innovative gene-cell therapy for the treatment of Pompe disease, a rare inherited disorder associated with a defect in the 伪-glucosidase (GAA) enzyme, leading to glycogen accumulation and damage to muscle and nerve tissue. The project, implemented at the Institute of Fundamental Medicine and Biology, aims to create a fundamentally new approach to treating the disease.
The technology being developed is based on the modification of the patient’s own hematopoietic (blood-forming) stem cells.
“Using a lentiviral vector, the correct copy of the GAA gene is introduced into the cells, allowing for the restoration of functional enzyme synthesis. This approach has already proven its effectiveness worldwide in the treatment of metachromatic leukodystrophy (the drug Libmeldy is considered the most expensive drug in the world, costing approximately $4.25 million per dose). However, there are currently no registered gene therapy therapies for Pompe disease, despite active research in this area,” comments Albert Rizvanov, chief researcher at the Laboratory of Gene and Cell Technologies, Corresponding Member of the Academy of Sciences of the Republic of Tatarstan.
A team of 抖阴APP导航 scientists published a systematizing modern approaches to Pompe disease therapy, including enzyme replacement and gene therapy, as well as promising cell technologies. The study demonstrates that existing therapy based on the administration of a recombinant enzyme has significant limitations, including lifelong treatment dependence and limited efficacy in a number of tissues.
A prototype gene therapy drug based on a lentiviral delivery system for the treatment of Pompe disease has already been developed at 抖阴APP导航. Researchers are currently beginning preclinical testing: first in cell models, then in laboratory animals. These stages are necessary to confirm the efficacy and safety of the therapy before moving on to clinical trials.
At the same time, the university is modernizing the Center for Cellular Technologies, as well as developing the infrastructure of the University Clinic. Clinical trials of gene therapy drugs developed at the university are planned to be conducted at those facilities.
It is worth noting that Kazan University has established a cryogenic biobank – a specialized cryostorage facility where umbilical cord blood and hematopoietic stem cells from donors are frozen and stored according to a customized freezing protocol using a high-precision digital programmable cryofreezer.
The approach being developed could potentially make it possible to move away from lifelong cell therapy.