New Paradigms in Management of Central Nervous System Damage in Patients with Hunter Syndrome
TL;DR
Development of pabinafusp alfa (JR-141), innovative drug penetrating the BBB via transcytosis mediated by the transferrin receptor, became one of the approaches to solve this problem.
Abstract
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a progressive lysosomal storage disease with X-linked recessive inheritance. This disease is caused by pathogenic or probably pathogenic variants in the IDS gene encoding iduronate 2-sulfatase. This enzyme insufficiency leads to glycosaminoglycans accumulation in cells of various organs and tissues, which underlies the multisystem lesion. There is neuropathic form of MPS II with progressive central nervous system (CNS) damage and behavioral disorders, and milder form without any intellectual disorders. There are methods of effective pathogenetic therapy for this disease, however, they do not affect CNS manifestations. Thus, there is topical issue in management of neuropathic MPS II forms on transporting enzyme-replacement medications through the blood-brain barrier (BBB). Development of pabinafusp alfa (JR-141), innovative drug penetrating the BBB via transcytosis mediated by the transferrin receptor, became one of the approaches to solve this problem. This publication provides the literature review on the pabinafusp alfa administration for management of neuropathic MPS II forms focusing its efficacy and safety.