CO30 Disease Burden and Efficacy of Current Treatment for Non-Neuronopathic MPS II Patients: A Systematic Literature Review

Mucopolysaccharidosis II (MPSII, Hunter syndrome) is an ultra-rare genetic disease (incidence rate: 0.38 to 1.09/100,000 live male births) with manifestations caused by mutations in the iduronate-2-sulfatase gene, leading to impaired enzymatic function and accumulation of glycosaminoglycans in multiple systems and organs. The non-neuronopathic phenotype (nnMPSII) is characterized by delayed recognition and absent or milder CNS manifestations. Although enzyme replacement therapy (ERT) for MPSII was approved in 2006, ERT is unable to access the CNS, and characterization of unmet need has predominantly focused on the severe population.
Source: Value in Health - Category: International Medicine & Public Health Authors: Source Type: research