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Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis (MPS) I

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ClinicalTrials.gov Identifier: NCT00215527
Recruitment Status : Terminated (Due to slow enrolment.)
First Posted : September 22, 2005
Last Update Posted : February 21, 2013
Information provided by (Responsible Party):

Study Description
Brief Summary:
The investigators are studying the use of enzyme replacement therapy into the spinal fluid for treatment of spinal cord compression in the Hurler-Scheie and Scheie forms of mucopolysaccharidosis I (MPS I). Funding source -- FDA OOPD

Condition or disease Intervention/treatment Phase
Mucopolysaccharidosis I Lysosomal Storage Diseases Spinal Cord Compression Drug: laronidase Phase 1

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.

Study Design

Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 4 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: A Study of Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis I
Study Start Date : November 2005
Primary Completion Date : October 2011
Study Completion Date : October 2011

Arms and Interventions

Arm Intervention/treatment
Experimental: intrathecal laronidase
laronidase dose 1.74 mg, route intrathecal, frequency every 30 days, duration three months
Drug: laronidase
0.58 mg/ml solution for intravenous injection, dose 1.74 mg intrathecally once per month for four injections.
Other Name: Aldurazyme

Outcome Measures

Primary Outcome Measures :
  1. safety of intrathecal enzyme treatment by blood and spinal fluid tests each month [ Time Frame: four months ]

Secondary Outcome Measures :
  1. improvement in spinal cord compression due to mucopolysaccharidosis I [ Time Frame: four months ]

Eligibility Criteria

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Ages Eligible for Study:   8 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Hurler-Scheie,Scheie form of MPS I, of Hurler 2 years after hematopoietic stem cell transplantation
  • Spinal cord compression
  • Age greater than 8 years
  • Able to provide legal informed consent
  • Aware of clinical treatment option of observation without treatment or surgical decompression
  • Negative urine pregnancy test at screening (non-sterile females of child-bearing potential only)
  • Currently using two acceptable methods of birth control (non-sterile females of child-bearing potential who are sexually active only)
  • Willing and able to comply with study procedures

Exclusion Criteria:

  • Severe (Hurler) form of MPS I
  • Desires surgical or medical treatment of spinal cord compression
  • Spinal cord compression that warrants immediate surgical intervention
  • Pregnancy or lactation
  • Hematopoietic stem cell transplantation within 2 years of study enrollment
  • Receipt of an investigational drug within 30 days of enrollment
  • Infusion reactions to laronidase that required medical intervention, prophylaxis, or altered enzyme administration
  • Significant anti-iduronidase antibody titer
  • Recent initiation of intravenous laronidase (within past 6 months)
  • Presence of cervical subluxation or similar external pathology as the major cause of cord compression symptoms for which surgical intervention should be immediately undertaken
Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00215527

United States, California
Los Angeles Biomedical Research Institute at Harbor-UCLA ( LA BioMed )
Torrance, California, United States, 90502
Helsinki University Central Hospital
Helsinki, Finland, FI-00014
Sponsors and Collaborators
Patricia I. Dickson, M.D.
The Ryan Foundation
University of California, Los Angeles
FDA Office of Orphan Products Development
Principal Investigator: Patricia I Dickson, M.D. Los Angeles Biomedical Research Institute at Harbor-UCLA
More Information

Responsible Party: Patricia I. Dickson, M.D., Associate Professor of Pediatrics, Dickson, Patricia I., M.D.
ClinicalTrials.gov Identifier: NCT00215527     History of Changes
Other Study ID Numbers: MIRC-001
12069-01 ( Other Identifier: Los Angeles Biomedical Research Institute at Harbor-UCLA )
First Posted: September 22, 2005    Key Record Dates
Last Update Posted: February 21, 2013
Last Verified: February 2013

Keywords provided by Patricia I. Dickson, M.D., Dickson, Patricia I., M.D.:
spinal cord compression
central nervous system
enzyme replacement therapy
LA Biomed

Additional relevant MeSH terms:
Lysosomal Storage Diseases
Spinal Cord Compression
Mucopolysaccharidosis I
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Connective Tissue Diseases
Metabolic Diseases
Spinal Cord Diseases
Central Nervous System Diseases
Nervous System Diseases
Spinal Cord Injuries
Wounds and Injuries