Aqneursa medicine

In recent years, there have been several attempts at gene therapy of the childhood form of the disease using different viral vectors and with different forms of application. A clear effect of this therapy has not yet been reported in patients with infantile forms of the disease. In patients with a slowly progressing form of the disease with manifestation of symptoms in adolescence or adulthood, an international multicenter study with venglustat (a substrate reducing therapy) was conducted between 2020 and 2024, which was terminated due to the absence of a sufficient effect of the product. 9 of our patients also participated in the study. A phase 2 clinical trial of N-acetyl-L-leucine (IB-1001) has now been completed, the results indicate a positive effect on some clinical manifestations of Tay-Sachs disease and some other lysosomal disorders with progressive neurological impairment. The FDA has approved an orally administered product under the brand name Aqneursa as a modifying treatment for late Tay-Sachs disease in the US. The approval process of this product is currently underway in Europe through the European Medicines Agency (EMA). The EMA's approval of this drug for the treatment of late Tay-Sachs disease is a prerequisite for its subsequent registration in the Czech Republic.