Chemically modified recombinant human sulfamidase (SOBI003) in mucopolysaccharidosis IIIA patients: Results from an open, non-controlled, multicenter study

Harmatz P., Muenzer J., EZGÜ F. S. , Dalen P., Huledal G., Lindqvist D., ...More

MOLECULAR GENETICS AND METABOLISM, vol.136, no.4, pp.249-259, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 136 Issue: 4
  • Publication Date: 2022
  • Doi Number: 10.1016/j.ymgme.2022.06.008
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, Chemical Abstracts Core, EMBASE, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.249-259
  • Keywords: Mucopolysaccharidosis IIIA, Chemically modified recombinant human sulfamidase, Heparan sulfate, Plasma exposure, Blood-brain barrier, Anti-drug antibodies, SANFILIPPO-SYNDROME, CEREBROSPINAL-FLUID, NATURAL-HISTORY, CHILDREN, THERAPY, BRAIN
  • Gazi University Affiliated: Yes


Purpose: Mucopolysaccharidosis IIIA (MPS IIIA) is an inherited lysosomal storage disorder caused by mutations in the N-sulfoglucosamine sulfohydrolase gene that result in deficient enzymatic degradation of heparan sulfate (HS), resulting in progressive neurodegeneration in early childhood and premature death. A chemically modified variant of recombinant human sulfamidase, SOBI003, has shown to cross the blood-brain barrier (BBB) in mice and achieve pharmacologically relevant levels in cerebrospinal fluid (CSF). We report on a phase 1/2, open-label, first-in-human (FIH) study (NCT03423186) and its extension study (NCT03811028) to evaluate the long-term safety, tolerability, pharmacokinetics/pharmacodynamics (PK/PD) and clinical efficacy of SOBI003 in patients with MPS IIIA for up to 104 weeks.