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

NCT01521429 | Completed

• 2 other identifiers: 0906M68810U54NS065768
• Study Type: observational
• Target: 55
• Locations: 1 country
• Sites: 3

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.

Conditions

Mucopolysaccharidoses

Outcome Measures

Primary Outcomes (1)

• Annual change in dual energy x-ray absorptiometry (DXA)

  Measurement of bone density and body composition

  baseline, year 1, year 2, year 3

Secondary Outcomes (5)

• Annual change in Peripheral quantitative computer tomography (pQCT)

  baseline, year 1, year 2, year 3

• Annual change in Biomarkers of bone remodeling

  baseline, year 1, year 2, year 3

• Annual change in Biodex

  baseline, year 1, year 2, year 3

• Annual change in Endocrine function tests

  baseline, year 1, year 2, year 3

• Annual change in growth measurements

  baseline, year 1, year 2, year 3

Study Arms (3)

MPS I

Mucopolysaccharidosis I (Hurler, Scheie, Hurler-Scheie)

MPS II

Mucopolysaccharidosis II (Hunter)

MPS VI

Mucopolysaccharidosis VI (Maroteaux-Lamy)

Eligibility Criteria

• Age: 5 Years - 35 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

community sample

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center: lead
• Rare Diseases Clinical Research Network: collaborator
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator
• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK): collaborator
• UCSF Benioff Children's Hospital Oakland: collaborator
• National Center for Advancing Translational Sciences (NCATS): collaborator

Study Sites (3)

Children's Hospital & Research Center Oakland

Oakland, California, 94609, United States

Location

Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center

Torrance, California, 90502, United States

Location

University of Minnesota

Minneapolis, Minnesota, 55454, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Serum, plasma, white cells for DNA extraction, and urine will be retained.

MeSH Terms

Conditions

Mucopolysaccharidoses

Condition Hierarchy (Ancestors)

Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Lynda E Polgreen, MD, MS

  Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor

Study Record Dates

• First Submitted: November 11, 2011
• First Posted: January 30, 2012
• Study Start: August 1, 2009
• Primary Completion: July 31, 2019
• Study Completion: July 31, 2019
• Last Updated: October 22, 2024

Record last verified: 2019-11

Locations

US (3)