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 June 2013 by University of Minnesota - Clinical and Translational Science Institute
Sponsor:
Collaborators:
Rare Diseases Clinical Research Network
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: June 3, 2013
Last verified: June 2013
  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:

  1. determine long-term benefits and limitations of current treatments including HCT or ERT
  2. direct development of further treatment options
  3. 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.

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
Estimated Study Completion Date: September 2014
Estimated Primary Completion Date: September 2014 (Final data collection date for primary outcome measure)
Groups/Cohorts
MPS I, II, or VI

  Eligibility

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

Criteria

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 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
Rare Diseases Clinical Research Network
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, U54NS065768
Study First Received: November 11, 2011
Last Updated: June 3, 2013
Health Authority: United States: Institutional Review Board

Additional relevant MeSH terms:
Mucopolysaccharidoses
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 September 30, 2014