A team of researchers including specialists from Kazan Federal University is working on a treatment for Pompe disease. The technology relies on modifying a patient’s own hematopoietic (blood-forming) stem cells.
The scientists have already built a prototype gene therapy using a lentiviral delivery system. They are now beginning preclinical testing, first on cell models and then on laboratory animals.
“A lentiviral vector — a tool for delivering genetic material into cells based on lentiviruses, a subclass of retroviruses — is used to insert a correct copy of the GAA gene into cells, restoring production of the functional enzyme,” said Albert Rizvanov, chief researcher at the OpenLab Gene and Cell Technologies laboratory at KFU’s Institute of Fundamental Medicine and Biology. “A similar approach has already proven effective worldwide in treating metachromatic leukodystrophy, with the drug Libmeldy — considered the world’s most expensive medicine at around $4.25 million per dose. However, despite active research, no gene therapy for Pompe disease has been registered to date,” he added.
The approach under development could shift treatment from lifelong supportive care to a single one-time therapy with lasting effects, the researchers believe.
