OPKO Health of Miami has been awarded a $200,000 research grant from the University of Pennsylvania Center for Orphan Disease Research and Therapy to develop a therapeutic agent to treat Mucopolysaccharidoses Type I (MPS I). The disease, called Hurler disease, Sheie syndrome, or Hurler-Sheie Syndrome, depending on severity, affects many body systems and can lead to organ damage. It occurs in one in 100,000 births, and is caused by a defect in the gene coding for the lysosomal enzyme, α-L-iduronidase (IDUA). As a result of this genetic mutation, cells of affected individuals are either unable to produce IDUA or produce it in low amounts. This results in an inability of lysosomes to effect the stepwise degradation of certain glycosaminoglycans (GAGs), namely dermatan sulfate and heparan sulfate, a process essential for normal growth and maintenance of tissues.

OPKO has a proprietary AntagoNAT technology platform which involves designing specific oligonucleotide molecules to target a non-coding Natural Antisense Transcript of a target gene resulting in up-regulation of the targeted gene to increase production of a protein, such as IDUA.


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