Extension Study of Intrathecal Enzyme Replacement Therapy for MPS I

NCT00786968 | Terminated Phase 1 DMC

• 1 other identifier: MIRC-001-01
• Study Type: interventional
• Target: 3
• Locations: 2 countries
• Sites: 2

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

Conditions

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

Keywords

mucopolysaccharidosis; Hurler-Scheie; Scheie; laronidase; spinal cord compression; central nervous system; enzyme replacement therapy; intrathecal

Outcome Measures

Primary Outcomes (1)

• safety of intrathecal enzyme treatment by blood and spinal fluid tests; improvement or stabilization in neurologic signs and symptoms of spinal cord compression

  1 year

Study Arms (1)

intrathecal laronidase

EXPERIMENTAL

drug laronidase, dose 1.74 mg, route intrathecal, frequency every 30-90 days, duration 1 year

Drug: laronidase

Interventions

laronidase DRUG

1.74 mg intrathecally every 1-3 months for 1 year

Also known as: Aldurazyme, recombinant human alpha-l-iduronidase

intrathecal laronidase

Eligibility Criteria

• Age: 8 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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)

You may not qualify if:

• 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

Sponsors & Collaborators

• Patricia I. Dickson, M.D.: lead
• The Ryan Foundation: collaborator

Study Sites (2)

Los Angeles Biomedical Research Institute at Harbor-UCLA

Torrance, California, 90502, United States

Location

Helsinki University Central Hospital

Helsinki, Finland

Location

MeSH Terms

Conditions

Spinal Cord Compression; Mucopolysaccharidosis I; Lysosomal Storage Diseases; Mucopolysaccharidoses

Interventions

Iduronidase

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinal Cord Injuries; Wounds and Injuries; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Glycoside Hydrolases; Hydrolases; Enzymes; Enzymes and Coenzymes

Study Officials

• Patricia I Dickson, MD

  Los Angeles Biomedical Research Institute at Harbor-UCLA

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDIV
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Associate Professor of Pediatrics

Study Record Dates

• First Submitted: June 17, 2008
• First Posted: November 6, 2008
• Study Start: January 1, 2008
• Primary Completion: October 1, 2011
• Study Completion: October 1, 2011
• Last Updated: February 21, 2013

Record last verified: 2013-02

Locations

FI (1); US (1)