Enzyme replacement therapy with laronidase (Aldurazyme, recombinant human a-L-iduronidase, EC 3.2.1.76) has been developed for MPS I, a lysosomal storage disorder. Laronidase given weekly into the vein helps many physical problems due to the disease, but does not treat the brain and spinal cord. The investigators purpose is to test delivery of laronidase given into the spinal fluid in patients with MPS I.
The first aim i s a pilot study of laronidase administered once per month into the spinal fluid for four months. Up to 10 study participants with spinal cord compression due to MPS will be studied. In the second aim, the treatment is continued every one to three months for a one-year extension period. The goals are to measure the safety and effectiveness of laronidase given into the spinal fluid to treat or stabilize spinal cord compression in the Hurler-Scheie and Scheie forms of MPS I. If successful, delivery into the spinal fluid could represent a practical, straightforward method of treating central nervous system disease due to lysosomal storage.
| Dickson, Patricia I; Kaitila, Ilkka; Harmatz, Paul et al. (2015) Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I. Mol Genet Metab 116:69-74 |
| Vera, Moin; Le, Steven; Kan, Shih-Hsin et al. (2013) Immune response to intrathecal enzyme replacement therapy in mucopolysaccharidosis I patients. Pediatr Res 74:712-20 |
| Dickson, P I; Pariser, A R; Groft, S C et al. (2011) Research challenges in central nervous system manifestations of inborn errors of metabolism. Mol Genet Metab 102:326-38 |
| Dickson, Patricia I; Chen, Agnes H (2011) Intrathecal enzyme replacement therapy for mucopolysaccharidosis I: translating success in animal models to patients. Curr Pharm Biotechnol 12:946-55 |
| Chen, Agnes; Dickson, Patricia (2010) Intrathecal enzyme replacement therapy to treat spinal cord compression in mucopolysaccharidosis: Overview and rationale. J Pediatr Rehabil Med 3:7-11 |
