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Long-Term Safety and Clinical Outcomes of Intrathecal Heparan-N-Sulfatase in Patients With Sanfilippo Syndrome Type A

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source: Molecular genetics and metabolism

year: 2021

authors: Wijburg FA,Heap F,Rust S,de Ruijter J,Tump E,Marchal JP,Nestrasil I,Shapiro E,Jones SA,Alexanderian D


Currently, there is no effective therapy for mucopolysaccharidosis IIIA (MPS IIIA). Intravenously-administered enzyme replacement therapies, while effective in other forms of MPS without neurological involvement, have not been successful in patients with MPS IIIA, as they are unable to cross the blood-brain barrier to improve neurological symptoms. We evaluated the long-term safety, tolerability, and clinical outcomes of recombinant human heparan-N-sulfatase (rhHNS) administered intrathecally (IT) in children with MPS IIIA in a phase 1/2 extension study.

organization: Amsterdam UMC, University of Amsterdam, Pediatric Metabolic Diseases, Emma Children's Hospital and Amsterdam Lysosome Center "Sphinx", Amsterdam, the Netherlands. Electronic address:

DOI: 10.1016/j.ymgme.2021.09.003

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