MPS II PATIENTS RECEIVING ENZYME REPLACEMENT THERAPY

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This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Hunter syndrome (MPS II) is a rare inherited genetic disorder caused by a deficiency of iduronate-2-sulfatase (I2S), an enzyme required to catabolize glycosaminoglycans (GAGS). As a result, GAGs accumulate in lysosomes of affected tissue. In time, cells in the body become overloaded with GAGs and are injured, which leads to abnormalities with heart valves, oropharynx, lungs, liver, spleen, bones, joints, and nervous system. The progressive accumulation of GAGs in Hunter syndrome generally leads to death in the first or second decade of life. Presently, there is no effective therapy for MPS II. The primary objective of this open-label extension study is to collect long-term safety and clinical outcome data in patients with MPS II who are receiving Idursulfase enzyme replacement therapy. The secondary objective of the study is to collect safety data on commercially manufactured Idursulfase.