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Extension Study of Intrathecal Enzyme Replacement Therapy for MPS I

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00786968
Recruitment Status : Terminated (Due to slow enrolment.)
First Posted : November 6, 2008
Last Update Posted : February 21, 2013
The Ryan Foundation
Information provided by (Responsible Party):
Patricia I. Dickson, M.D., Dickson, Patricia I., M.D.

Brief 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

Condition or disease Intervention/treatment Phase
Spinal Cord Compression Mucopolysaccharidosis I Hurler-Scheie Syndrome Scheie Syndrome Lysosomal Storage Disease 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.

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 3 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: An Extension Study of Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis I
Study Start Date : January 2008
Actual Primary Completion Date : October 2011
Actual Study Completion Date : October 2011

Arm Intervention/treatment
Experimental: intrathecal laronidase
drug laronidase, dose 1.74 mg, route intrathecal, frequency every 30-90 days, duration 1 year
Drug: laronidase
1.74 mg intrathecally every 1-3 months for 1 year
Other Names:
  • Aldurazyme
  • recombinant human alpha-l-iduronidase

Primary Outcome Measures :
  1. safety of intrathecal enzyme treatment by blood and spinal fluid tests; improvement or stabilization in neurologic signs and symptoms of spinal cord compression [ Time Frame: 1 year ]

Information from the National Library of Medicine

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

Inclusion Criteria:

  • Hurler-Scheie, Scheie form of MPS I, or Hurler 2 years after hematopoietic stem cell transplantation

    • Spinal cord compression
    • Has received intrathecal laronidase previously with good response and no significant safety concerns
    • 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 (nonsterile females of child-bearing potential who are sexually active only)

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

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 identifier (NCT number): NCT00786968

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United States, California
Los Angeles Biomedical Research Institute at Harbor-UCLA
Torrance, California, United States, 90502
Helsinki University Central Hospital
Helsinki, Finland
Sponsors and Collaborators
Patricia I. Dickson, M.D.
The Ryan Foundation
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Principal Investigator: Patricia I Dickson, MD Los Angeles Biomedical Research Institute at Harbor-UCLA

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Responsible Party: Patricia I. Dickson, M.D., Associate Professor of Pediatrics, Dickson, Patricia I., M.D. Identifier: NCT00786968     History of Changes
Other Study ID Numbers: MIRC-001-01
First Posted: November 6, 2008    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

Additional relevant MeSH terms:
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Spinal Cord Compression
Lysosomal Storage Diseases
Mucopolysaccharidosis I
Pathologic Processes
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