ENZYME REPLACEMENT THERAPY FOR PATIENT W/ MUCOPOLYSACCHARIDOSIS I

本研究的目的是检测酶（重组人α-L-艾杜糖醛酸酶）替代治疗粘多糖沉积症I型（MPS I）患者的安全性和有效性。 这项多中心临床研究（II-III期）由Emil Kakkis博士指导，他招募了患者并指导了艾杜糖醛酸酶生产实验室（Torrance，CA）的酶制剂生产。 BioMarin Pharmaceutical，Inc.已为本研究中使用的酶分配了研究性新药申请编号BB-IND #7334。 我曾被要求对两名MPS I患者进行多次酶制剂输注。初步结果表明，酶输注对患者有益。益处包括减小肝脏和脾脏大小，减轻疼痛，增加运动耐量并降低关节僵硬，改善步态并改善平衡，改善视力和听力。

The purpose of this study is to test the safety and efficacy of enzyme (recombinant human a-L-iduronidase) replacement in patients with mucopolysaccharidosis I (MPS I). This multi-center clinical study (phase II-III) is directed by Dr. Emil Kakkis, who recruited the patients and directs the enyzme production in the Iduronidase Production Laboratory, Torrance, CA. BioMarin Pharmaceutical, Inc. have been assigned the Investigational New Drug Application number BB-IND #7334 for the enzyme to be used in this study. I have been asked to administer at UNC some of the enyzme infusions to two patients with MPS I. Preliminary results have indicated that the enzyme infusions have been beneficial to the patients. Benefits have included decreased liver and spleen size, decreased pain, increased exercise tolerance with decreased joint stiffness, improved gait with better balance, improved vision and hearing.