Inborn errors of metabolism (IEMs) are a heterogeneous group of genetic disorders. All of them are rare but, if considered together, they affect a substantial number of patients, with an estimated frequency of approximately 1: 2,500. These disorders are characterized by a complex pathophysiology (in most cases only partially understood), multisystem involvement, and are often associated with physical or mental handicaps, and with premature death. For these reasons they significantly impact on social health.
Only for some IEMs therapeutic strategies are available and are effective. For several IEMs there are no approved therapies, or current therapies are unsatisfactory. In my presentation I will discuss about unmet medical needs and challenges in the management of Pompe disease, a severe and progressive IEM due to the deficiency of a lysosomal enzyme, acid alpha-glucosidase. Our studies were focused on the characterization of the disease pathophysiology and on the development of novel therapeutic approaches
Published on June 3, 2022