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Longitudinal Study of Bone Disease in Children With Mucopolysaccharidoses (MPS) I, II, and VI

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ClinicalTrials.gov Identifier: NCT01521429
Recruitment Status : Active, not recruiting
First Posted : January 30, 2012
Last Update Posted : May 5, 2017
Information provided by (Responsible Party):

Study Description
Brief Summary:
Approximately 85% of individuals with Mucopolysaccharidosis (MPS) type I, II, or VI report weekly pain and 50-60% have significant limitations in their activities of daily living due to MPS related musculoskeletal disease despite treatment with enzyme replacement therapy (ERT). Thus there is a critical need to identify additional therapies to alleviate the burden of musculoskeletal disease in order to improve the health and quality of life of individuals with MPS. However, disease progression needs to be quantified to be able to determine efficacy of new therapies. This study is a multi-institutional, 5-year, longitudinal study of musculoskeletal disease in MPS. The objective is to quantitatively describe the progression of skeletal disease and identify biomarkers that either predict disease severity or could be used as therapeutic targets in individuals with MPS I, II, and VI. A database of standardized measurements of musculoskeletal disease in MPS will allow the field to efficiently move forward with therapeutic clinical trials in patients with MPS.

Condition or disease

  Show Detailed Description

Study Design

Study Type : Observational
Actual Enrollment : 55 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Longitudinal Study of Bone and Endocrine Disease in Children With MPS I, II, and VI: A Multicenter Study of the Lysosomal Disease Network.
Study Start Date : August 2009
Estimated Primary Completion Date : September 2019
Estimated Study Completion Date : September 2019

Groups and Cohorts

Mucopolysaccharidosis I (Hurler, Scheie, Hurler-Scheie)
Mucopolysaccharidosis II (Hunter)
Mucopolysaccharidosis VI (Maroteaux-Lamy)

Outcome Measures

Primary Outcome Measures :
  1. Annual change in dual energy x-ray absorptiometry (DXA) [ Time Frame: baseline, year 1, year 2, year 3 ]
    Measurement of bone density and body composition

Secondary Outcome Measures :
  1. Annual change in Peripheral quantitative computer tomography (pQCT) [ Time Frame: baseline, year 1, year 2, year 3 ]
    Measurement of volumetric bone density, bone geometry, bone strength, and muscle fat

  2. Annual change in Biomarkers of bone remodeling [ Time Frame: baseline, year 1, year 2, year 3 ]
    Measurements of bone turnover

  3. Annual change in Biodex [ Time Frame: baseline, year 1, year 2, year 3 ]
    Measurement of muscle strength

  4. Annual change in Endocrine function tests [ Time Frame: baseline, year 1, year 2, year 3 ]
    Thyroid function, growth factor levels, pubertal hormones, vitamin D

  5. Annual change in growth measurements [ Time Frame: baseline, year 1, year 2, year 3 ]
    sitting and standing heights, arm and tibial length

Biospecimen Retention:   Samples With DNA
Serum, plasma, white cells for DNA extraction, and urine will be retained.

Eligibility Criteria

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Ages Eligible for Study:   5 Years to 35 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
community sample

Inclusion Criteria:

  • Diagnosis of MPS I, II, or VI
  • Ability to travel to study center for evaluations.
  • Age ≥ 5 years and < 35 years: age at entry into study must be ≥5 years and ≤33 years to ensure a minimum of 2 study visits.

Exclusion Criteria:

  • Pregnancy (will be determined at each study visit)
  • Participation in any other study within the past 12 months which would result in increasing the child's radiation exposure above 500 mrem for the calendar year.
  • Participants who cannot comply with study procedures or have other factors that would inhibit their participation as determined by the PI's discretion.
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): NCT01521429

United States, California
Children's Hospital & Research Center Oakland
Oakland, California, United States, 94609
Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center
Torrance, California, United States, 90502
United States, Minnesota
University of Minnesota
Minneapolis, Minnesota, United States, 55454
Sponsors and Collaborators
Los Angeles Biomedical Research Institute
Rare Diseases Clinical Research Network
National Institute of Neurological Disorders and Stroke (NINDS)
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Children's Hospital & Research Center Oakland
National Center for Advancing Translational Science (NCATS)
Principal Investigator: Lynda E Polgreen, MD, MS Los Angeles Biomedical Research Institute
More Information

Responsible Party: Los Angeles Biomedical Research Institute
ClinicalTrials.gov Identifier: NCT01521429     History of Changes
Other Study ID Numbers: 0906M68810
U54NS065768 ( U.S. NIH Grant/Contract )
First Posted: January 30, 2012    Key Record Dates
Last Update Posted: May 5, 2017
Last Verified: May 2017

Additional relevant MeSH terms:
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Connective Tissue Diseases
Metabolic Diseases