Swedish Orphan Biovitrum AB (SOBI) reports it has dosed first patient in its Phase 1/2 clinical trial evaluating SOB1003 to treat Sanfilippo syndrome type A. Two key research sites include Children’s Hospital and Research Center, Oakland California and the University of North Carolina Hospitals as well as Gazi University Hospital, Turkey. See the clinical trial: https://clinicaltrials.gov/ct2/show/NCT03423186
SanFilippo syndrome is a rare autosomal recessive lysosomal storage disease. It is caused by a deficiency in one of the enzymes needed to break down glycosaminoglycan (GAG) heparan sulfate—found in the extra-cellular matrix and on cell surface glycoproteins.
Typically, those affected children do not show any signs or symptoms at birth. In early childhood, they begin to develop developmental disability and loss of previously learned skills. In later stages they may develop seizures and movement disorders. It has an occurrence of 1 in 70,000 births.
To read the full Sanfilippo Syndrome News article authored by Patricia Inacio follow linkSource: SanFilippoo News