Longitudinal Study of Bone Disease in Children With Mucopolysaccharidoses (MPS) I, II, and VI
This study is currently recruiting participants.
Verified September 2012 by University of Minnesota - Clinical and Translational Science Institute
Sponsor:
University of Minnesota - Clinical and Translational Science Institute
Collaborators:
Children's Hospital & Research Center Oakland
University of Utah
Information provided by (Responsible Party):
University of Minnesota - Clinical and Translational Science Institute
ClinicalTrials.gov Identifier:
NCT01521429
First received: November 11, 2011
Last updated: September 18, 2012
Last verified: September 2012
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Purpose
Mucopolysaccharidoses (MPS) I, II, and VI are a group of rare, lysosomal storage disorders in which certain enzymes are missing that are normally required for breaking down specific complex carbohydrates.
Deficiencies in these enzymes result in the build-up of toxic substances in various tissues and cause damage to the body's organs. In the past, children diagnosed with MPS I, II, or VI frequently died in early to late childhood. Recent advances in treatments including hematopoietic cell transplantation (HCT) and enzyme replacement therapy (ERT) have been helping children with these disorders live into adulthood.
Although it appears that poor growth and abnormal bone development persist, this has not yet been well studied. Researchers would like to know more about the long-term course of MPS I, II, and VI. Therefore, the purpose of this study is to learn more about growth, bone disease and endocrine dysfunction in children with MPS I, II and VI over time. This information is needed to:
- determine long-term benefits and limitations of current treatments including HCT or ERT
- direct development of further treatment options
- improve clinical care for children affected by the disorders
| Condition |
|---|
|
Mucopolysaccharidoses |
| 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. AKA Natural History of Bone Disease and the Impact of Growth Hormone Treatment in MPS. |
Resource links provided by NLM:
Further study details as provided by University of Minnesota - Clinical and Translational Science 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 |
| Groups/Cohorts |
|---|
| MPS I, II, or VI |
Eligibility| Ages Eligible for Study: | 5 Years to 16 Years |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
Study Population
community sample
Criteria
Inclusion Criteria:
- Diagnosis of MPS I, II, or VI
- Ability to travel to study center for evaluations.
- Age ≥ 5 years and < 18 years: age at entry into study must be ≥5 years and ≤16 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
Please refer to this study by its ClinicalTrials.gov identifier: NCT01521429
Contacts
| Contact: Jane Kennedy, RN | 612-626-5609 | kenne634@umn.edu |
| Contact: Lynda Polgreen, MD, MS | 612-624-4459 | polgr001@umn.edu |
Locations
| United States, California | |
| Children's Hospital & Research Center Oakland | Recruiting |
| Oakland, California, United States, 94609 | |
| Contact: Ellen Fung, PhD 510-428-3885 ext 4939 EFung@mail.cho.org | |
| Principal Investigator: Ellen Fung, PhD, RD, CCD | |
| United States, Minnesota | |
| University of Minnesota | Recruiting |
| Minneapolis, Minnesota, United States, 55454 | |
| Contact: Jane Kennedy, RN 612-626-5609 kenne634@umn.edu | |
| Principal Investigator: Lynda Polgreen, MD, MS | |
| United States, Utah | |
| University of Utah | Recruiting |
| Salt Lake City, Utah, United States, 84108 | |
| Contact: Lisa Smith 801-581-2764 lisa.smith@hsc.utah.edu | |
| Principal Investigator: David Viskochil, MD | |
| Sub-Investigator: David Stevenson, MD, PhD | |
Sponsors and Collaborators
University of Minnesota - Clinical and Translational Science Institute
Children's Hospital & Research Center Oakland
University of Utah
Investigators
| Principal Investigator: | Lynda E Polgreen, MD, MS | University of Minnesota - Clinical and Translational Science Institute |
More Information
No publications provided
| Responsible Party: | University of Minnesota - Clinical and Translational Science Institute |
| ClinicalTrials.gov Identifier: | NCT01521429 History of Changes |
| Other Study ID Numbers: | 0906M68810 |
| Study First Received: | November 11, 2011 |
| Last Updated: | September 18, 2012 |
| Health Authority: | United States: Institutional Review Board |
Additional relevant MeSH terms:
|
Mucopolysaccharidosis I Mucopolysaccharidoses Bone Diseases Musculoskeletal Diseases Carbohydrate Metabolism, Inborn Errors Metabolism, Inborn Errors |
Genetic Diseases, Inborn Lysosomal Storage Diseases Mucinoses Connective Tissue Diseases Metabolic Diseases |
ClinicalTrials.gov processed this record on May 16, 2013