NCT00786968

Extension Study of Intrathecal Enzyme Replacement Therapy for MPS I

An Extension Study of Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis I

• Status: Terminated
• Phase: Phase 1
• Study type: Interventional
• Enrollment: 3 (actual)
• Sponsor: Patricia I. Dickson, M.D. · Individual
• Sex: All
• Age: 8 Years
• Healthy volunteers: Not accepted

Summary

This is a one-year extension study of the use of laronidase into the spinal fluid to treat spinal cord compression in mucopolysaccharidosis I. Mucopolysaccharidosis I is a rare genetic condition due to deficiency of the enzyme alpha-l-iduronidase. Spinal cord compression occurs in this condition due to accumulation of material called glycosaminoglycans (GAG). Laronidase is the manufactured form of the enzyme alpha-l-iduronidase that is deficient in mucopolysaccharidosis I patients. The aim of this study is to determine whether laronidase is safe and effective when given into the spinal fluid as a potential non-surgical treatment for spinal cord compression due to mucopolysaccharidosis I disease. Funding Source -- FDA OOPD

Detailed description

Enzyme replacement therapy (ERT) has been developed for mucopolysaccharidosis I (MPS I), a lysosomal storage disorder. ERT helps many physical ailments due to the disease, but does not treat the central nervous system, due to inability to cross the blood brain barrier. Our purpose is to test delivery of ERT to the spinal fluid via intrathecal injection in patients with MPS I. In this pilot study, we will use recombinant human α-L-iduronidase administered intrathecally once per month for four months to individuals with the Hurler-Scheie and Scheie forms of MPS I and spinal cord compression. If successful, intrathecal delivery could represent a practical, straightforward method of treating central nervous system disease due to lysosomal storage.

Conditions

• Spinal Cord Compression
• Mucopolysaccharidosis I
• Hurler-Scheie Syndrome
• Scheie Syndrome
• Lysosomal Storage Disease

Interventions

Type	Name	Description
DRUG	laronidase	1.74 mg intrathecally every 1-3 months for 1 year

Timeline

• Start date: 2008-01-01
• Primary completion: 2011-10-01
• Completion: 2011-10-01
• First posted: 2008-11-06
• Last updated: 2013-02-21

Locations

2 sites across 2 countries: United States, Finland