ENZYME REPLACEMENT THERAPY FOR PATIENT W/ MUCOPOLYSACCHARIDOSIS I

本研究的目的是测试重组人α-L艾杜糖苷酶替代治疗粘多糖病I型的安全性和有效性。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，并在加利福尼亚州托兰斯的艾杜糖酸酶生产实验室指导Enyzme的生产。BioMarin制药公司已经被分配了用于这项研究的酶的研究新药申请号BB-IND#7334。我被要求在北卡罗来纳大学给两名MPS I患者注射一些Enyzme输液。初步结果表明，这些酶的输注对患者是有益的。好处包括减小肝和脾的大小，减轻疼痛，增加运动耐力，降低关节僵硬，改善步态和更好的平衡，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.