[HTML][HTML] Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial
FA Wijburg, CB Whitley, J Muenzer, S Gasperini… - Molecular genetics and …, 2019 - Elsevier
Background Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA) is a lysosomal
disorder wherein deficient heparan-N-sulfatase (HNS) activity results in the accumulation of
heparan sulfate in the central nervous system and is associated with progressive
neurodegeneration in early childhood. We report on the efficacy, pharmacokinetics, safety,
and tolerability of intrathecal (IT) administration of recombinant human HNS (rhHNS) from a
phase IIb randomized open-label trial. Methods Twenty-one patients, randomized 1: 1: 1 to …
disorder wherein deficient heparan-N-sulfatase (HNS) activity results in the accumulation of
heparan sulfate in the central nervous system and is associated with progressive
neurodegeneration in early childhood. We report on the efficacy, pharmacokinetics, safety,
and tolerability of intrathecal (IT) administration of recombinant human HNS (rhHNS) from a
phase IIb randomized open-label trial. Methods Twenty-one patients, randomized 1: 1: 1 to …
