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

This study is currently recruiting participants. (see Contacts and Locations)
Verified November 2014 by Los Angeles Biomedical Research Institute
Rare Diseases Clinical Research Network
Children's Hospital & Research Center Oakland
Information provided by (Responsible Party):
Los Angeles Biomedical Research Institute Identifier:
First received: November 11, 2011
Last updated: November 6, 2014
Last verified: November 2014

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.


Study Type: Observational
Study Design: 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.

Resource links provided by NLM:

Further study details as provided by Los Angeles Biomedical Research Institute:

Primary Outcome Measures:
  • Annual change in dual energy x-ray absorptiometry (DXA) [ Time Frame: baseline, year 1, year 2, year 3 ] [ Designated as safety issue: No ]
    Measurement of bone density and body composition

Secondary Outcome Measures:
  • Annual change in Peripheral quantitative computer tomography (pQCT) [ Time Frame: baseline, year 1, year 2, year 3 ] [ Designated as safety issue: No ]
    Measurement of volumetric bone density, bone geometry, bone strength, and muscle fat

  • Annual change in Biomarkers of bone remodeling [ Time Frame: baseline, year 1, year 2, year 3 ] [ Designated as safety issue: No ]
    Measurements of bone turnover

  • Annual change in Biodex [ Time Frame: baseline, year 1, year 2, year 3 ] [ Designated as safety issue: No ]
    Measurement of muscle strength

  • Annual change in Endocrine function tests [ Time Frame: baseline, year 1, year 2, year 3 ] [ Designated as safety issue: No ]
    Thyroid function, growth factor levels, pubertal hormones, vitamin D

  • Annual change in growth measurements [ Time Frame: baseline, year 1, year 2, year 3 ] [ Designated as safety issue: No ]
    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.

Estimated Enrollment: 50
Study Start Date: August 2009
Estimated Study Completion Date: September 2019
Estimated Primary Completion Date: September 2019 (Final data collection date for primary outcome measure)
Mucopolysaccharidosis I (Hurler, Scheie, Hurler-Scheie)
Mucopolysaccharidosis II (Hunter)
Mucopolysaccharidosis VI (Maroteaux-Lamy)

  Show Detailed Description


Ages Eligible for Study:   5 Years to 35 Years
Genders Eligible for Study:   Both
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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01521429

Contact: Lynda E Polgreen, MD, MS 310-222-1972

United States, California
Children's Hospital & Research Center Oakland Recruiting
Oakland, California, United States, 94609
Contact: Ellen Fung, PhD    510-428-3885 ext 4939   
Principal Investigator: Ellen Fung, PhD, RD, CCD         
Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center Recruiting
Torrance, California, United States, 90502
Contact: Lynda Polgreen, MD, MS    310-222-1972   
Principal Investigator: Lynda Polgreen, MD, MS         
United States, Minnesota
University of Minnesota Recruiting
Minneapolis, Minnesota, United States, 55454
Contact: Brad Miller, MD, PhS    612-624-5409   
Principal Investigator: Brad Miller, MD, PhD         
Sponsors and Collaborators
Los Angeles Biomedical Research Institute
Rare Diseases Clinical Research Network
Children's Hospital & Research Center Oakland
Principal Investigator: Lynda E Polgreen, MD, MS Los Angeles Biomedical Research Institute
  More Information

No publications provided

Responsible Party: Los Angeles Biomedical Research Institute Identifier: NCT01521429     History of Changes
Other Study ID Numbers: 0906M68810, U54NS065768
Study First Received: November 11, 2011
Last Updated: November 6, 2014
Health Authority: United States: Institutional Review Board

Additional relevant MeSH terms:
Carbohydrate Metabolism, Inborn Errors
Connective Tissue Diseases
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Mucinoses processed this record on March 03, 2015