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

• ClinicalTrials.gov Identifier: NCT01521429
• Recruitment Status: Completed
• First Posted: January 30, 2012
• Last Update Posted: November 21, 2019
• Sponsor: Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
• Collaborators: Rare Diseases Clinical Research Network; National Institute of Neurological Disorders and Stroke (NINDS); National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); UCSF Benioff Children’s Hospital Oakland; National Center for Advancing Translational Science (NCATS)
• Information provided by (Responsible Party): Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center

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
Mucopolysaccharidoses

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

Groups and Cohorts

Group/Cohort
MPS I; Mucopolysaccharidosis I (Hurler, Scheie, Hurler-Scheie)
MPS II; Mucopolysaccharidosis II (Hunter)
MPS VI; 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

• 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

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

Locations

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

Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center

Rare Diseases Clinical Research Network

National Institute of Neurological Disorders and Stroke (NINDS)

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

UCSF Benioff Children’s Hospital Oakland

National Center for Advancing Translational Science (NCATS)

Investigators

• Principal Investigator: Lynda E Polgreen, MD, MS; Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center

More Information

• Responsible Party: Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
• ClinicalTrials.gov Identifier: NCT01521429 History of Changes
• Other Study ID Numbers: 0906M68810; U54NS065768 ( U.S. NIH Grant/Contract )
• First Posted: January 30, 2012
• Last Update Posted: November 21, 2019
• Last Verified: November 2019

Additional relevant MeSH terms:

Mucopolysaccharidoses; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Metabolic Diseases