Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network

NCT01586871 | Completed Results

• 2 other identifiers: 1202M09721U54NS065768
• Study Type: observational
• Target: 1,147
• Locations: 1 country
• Sites: 2

Brief Summary

Mucopolysaccharidosis (MPS) syndromes are disorders characterized by enzyme deficiencies, and they have been linked to heart health complications. However, there are currently no proven markers of heart and artery health for this population. The main purpose of this observational study is to evaluate the ease and convenience of a non-invasive measurement of artery function in MPS I, MPS II and MPS VI patients compared to healthy control subjects. An observational study is a research design meaning that there is no treatment in this study. The research questions are:

1. 1.Is the artery health of MPS I, II and VI patients different than healthy controls?
2. 2.Is the artery health of MPS VI patients different than MPS I and II patients?

Conditions

Mucopolysaccharidoses

Keywords

MPS I; MPS II; MPS IIIA; MPS VI

Outcome Measures

Primary Outcomes (1)

• Carotid Intima-media Thickness, Measured in Millimeters

  The carotid intima-media thickness test (CIMT) is a measure used to diagnose the extent of carotid atherosclerotic vascular disease. The test measures the thickness of the inner two layers of the carotid artery-the intima and media-and alerts physicians to any thickening when patients are still asymptomatic. CIMT was measured from the far wall of the left common carotid.

  Baseline

Secondary Outcomes (3)

• Carotid Cross-sectional Distensibility

  Baseline

• Carotid Cross-sectional Compliance

  Baseline

• Carotid Incremental Elastic Modulus

  Baseline

Eligibility Criteria

• Age: 3 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

This is an observational study of 60 individuals with MPS I, II and VI between the ages of 3 and 18. Those participating in this study will be seen for a onetime, one-hour study visit. Participants will be enrolled at the University of Minnesota, Minneapolis, Minnesota and Children's Hospital of Orange County, Orange, California.

You may qualify if:

• Be between the ages of 3 and 18 years old
• Be diagnosed with MPS I, MPS II or MPS VI

You may not qualify if:

• None

Sponsors & Collaborators

• University of Minnesota: lead
• Rare Diseases Clinical Research Network: collaborator
• National Center for Advancing Translational Sciences (NCATS): collaborator
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator
• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK): collaborator

Study Sites (2)

Children's Hospital of Orange County

Orange, California, 92868, United States

Location

University of Minnesota

Minneapolis, Minnesota, 55455, United States

Location

Related Links

• Rare Disease Clinical Research Network

MeSH Terms

Conditions

Mucopolysaccharidoses; Sudden Infant Death; Mucopolysaccharidosis III; Mucopolysaccharidosis VI

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; Death, Sudden; Death; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Infant Death

Results Point of Contact

• Title: Aaron Kelly PhD
• Organization: University of Minnesota

kelly105@umn.edu

612-626-3492

Study Officials

• Aaron S Kelly, Ph.D.

  University of Minnesota

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: Yes
• Restrictive Agreement: No

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 25, 2012
• First Posted: April 27, 2012
• Study Start: March 1, 2012
• Primary Completion: August 1, 2016
• Study Completion: June 1, 2017
• Last Updated: February 24, 2021
• Results First Posted: February 3, 2021

Record last verified: 2021-02

Locations

US (2)