Mucopolysaccharidosis II

The primary objective of the study is to determine the safety and feasibility of intrathecal administration of DUOC-01 in patients who are undergoing standard treatment with umbilical cord blood transplant (UCBT) for inborn errors of metabolism and who have evidence of early demyelinating disease in the central nervous system (CNS). The secondary objective of the study is to describe the efficacy of UCBT with intrathecal administration of DUOC-01 in these patients.

This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with LSDs.

The goal of this observational study is to characterize the epidemiology and natural history of MPS diseases by building a retrospective and prospective collection of extensive phenotypic data from French MPS patients.