Effect of cisternal sulfamidase delivery in MPS IIIA Huntaway dogs—a proof of principle study

KM Hemsley, EJ Norman, AC Crawley, D Auclair… - Molecular genetics and …, 2009 - Elsevier
Mucopolysaccharidosis type IIIA (MPS IIIA) results from lack of functional sulfamidase
(SGSH), a lysosomal enzyme. Its substrate, heparan sulfate, and other secondarily-stored
compounds subsequently accumulate primarily within the central nervous system (CNS),
resulting in progressive mental deterioration and early death. Presently there is no
treatment. As a potential therapeutic strategy, recombinant human sulfamidase (rhSGSH)
was administered into the CSF (via the cerebellomedullary cistern) of three adult MPS IIIA …