In Japan, a rare disease is defined as a condition that affects less than 50,000. Of those diseases, lysosomal storage diseases, a group of inherited metabolic diseases, are well known, characterized by abnormal accumulation of various toxic substrates in cells as a result of enzyme deficiencies. There are more than 50 disorders altogether in this group, and they may affect different parts of the body, including the liver, spleen, heart, skeleton, brain, and central nervous system. Hunter syndrome(MPS II) is a lysosomal storage disorder resulting from a lack of a specific enzyme that breaks down mucopolysaccharides, and over 70 percent of the patients show progressive central nervous system(CNS) manifestations. Although enzyme replacement therapy(ERT) is effective on systemic symptoms, current ERT product cannot address CNS manifestations because the therapeutic enzyme does not cross the blood-brain barrier. To overcome this problem, we successfully developed JR-141, a novel ERT product for treatment of MPS II using our proprietary antibody-based drug delivery system called “J-Brain Cargo
®” for delivering enzymes of interests across the blood-brain barrier. In this paper, we present the data from the Phase I/II clinical trials with JR-141 as well as the brain distribution and efficacy data for JR-141 in mice and monkeys.
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