Longitudinal Study of Bone Disease in Children With Mucopolysaccharidoses (MPS) I, II, and VI
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ClinicalTrials.gov Identifier: NCT01521429 |
Recruitment Status :
Completed
First Posted : January 30, 2012
Last Update Posted : November 21, 2019
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Condition or disease |
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Mucopolysaccharidoses |

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 |
Actual Primary Completion Date : | July 31, 2019 |
Actual Study Completion Date : | July 31, 2019 |

Group/Cohort |
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MPS I
Mucopolysaccharidosis I (Hurler, Scheie, Hurler-Scheie)
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MPS II
Mucopolysaccharidosis II (Hunter)
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MPS VI
Mucopolysaccharidosis VI (Maroteaux-Lamy)
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- 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
- 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
- Annual change in Biomarkers of bone remodeling [ Time Frame: baseline, year 1, year 2, year 3 ]Measurements of bone turnover
- Annual change in Biodex [ Time Frame: baseline, year 1, year 2, year 3 ]Measurement of muscle strength
- Annual change in Endocrine function tests [ Time Frame: baseline, year 1, year 2, year 3 ]Thyroid function, growth factor levels, pubertal hormones, vitamin D
- 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

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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 |
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.

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 |
Principal Investigator: | Lynda E Polgreen, MD, MS | Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center |
Responsible Party: | Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center |
ClinicalTrials.gov Identifier: | NCT01521429 |
Other Study ID Numbers: |
0906M68810 U54NS065768 ( U.S. NIH Grant/Contract ) |
First Posted: | January 30, 2012 Key Record Dates |
Last Update Posted: | November 21, 2019 |
Last Verified: | November 2019 |
Mucopolysaccharidoses Carbohydrate Metabolism, Inborn Errors Metabolism, Inborn Errors Genetic Diseases, Inborn |
Lysosomal Storage Diseases Mucinoses Connective Tissue Diseases Metabolic Diseases |