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

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2013 by University of Minnesota - Clinical and Translational Science Institute
Sponsor:
Collaborators:
Rare Diseases Clinical Research Network
Information provided by (Responsible Party):
University of Minnesota - Clinical and Translational Science Institute
ClinicalTrials.gov Identifier:
NCT01586871
First received: April 25, 2012
Last updated: July 22, 2013
Last verified: July 2013
  Purpose

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

It is hypothesized that MPS patients will have poorer outcomes of artery health compared to healthy controls.


Condition
MPS I
MPS II
MPS VI
Mucopolysaccharidoses

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Cross-Sectional
Official Title: Carotid Structure and Function in MPS Syndromes: 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:
  • Carotid Artery Thickness [ Time Frame: Baseline ] [ Designated as safety issue: No ]
    Carotid Intima-Media Thickness


Secondary Outcome Measures:
  • Carotid Artery Stiffness [ Time Frame: Baseline ] [ Designated as safety issue: No ]
    Carotid compliance and distensibility


Estimated Enrollment: 60
Study Start Date: March 2012
Estimated Study Completion Date: August 2013
Estimated Primary Completion Date: August 2013 (Final data collection date for primary outcome measure)
Detailed Description:

Mucopolysaccharidosis (MPS) syndromes are disorders characterized by enzyme deficiencies. As a result of the enzyme deficiency, glycosaminoglycans that are normally recycled in a healthy individual cannot be degraded in the MPS patient. MPS syndromes have been linked to heart health complications. Complications related to coronary artery stenosis (narrowing) are recognized as potentially fatal sequelae of untreated and treated MPS. Presently, national guidelines are largely silent on coronary artery disease risk in this population. There are currently no validated markers of cardiovascular or coronary artery disease in the MPS 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. Exploring the validity and usefulness of this non-invasive measurement is the first step towards developing validated markers of cardiovascular or coronary artery disease in the MPS population.

Specific Aim #1: Compare carotid artery intima-media thickness and carotid stiffness in individuals with MPS I, II, and VI (treated and non-treated) vs. healthy age-and gender-matched controls. It is hypothesized that MPS patients will have increased carotid artery thickness and reduced carotid compliance and distensibility compared to healthy controls.

Specific Aim #2: Compare carotid artery intima-media thickness and carotid stiffness in individuals with MPS VI vs. I and II and between MPS I patients clinically treated with HSCT vs. ERT. It is hypothesized that MPS VI will have decreased carotid thickness and increased carotid compliance and distensibility compared to MPS I and II and that MPS I patients treated with ERT will have increased carotid thickness and reduced carotid compliance and distensibility compared to MPS I patients treated with HSCT.

  Eligibility

Ages Eligible for Study:   3 Years to 18 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
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.

Criteria

Inclusion Criteria:

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

Exclusion Criteria:

  • None
  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: NCT01586871

Contacts
Contact: Aaron S Kelly, Ph.D. 612-626-3492 kelly105@umn.edu

Locations
United States, California
Children's Hospital of Orange County Recruiting
Orange, California, United States, 92868
Contact: Raymond Wang, M.D.    714-532-8732    rawang@choc.org   
Principal Investigator: Raymond Wang, M.D.         
United States, Minnesota
University of Minnesota Recruiting
Minneapolis, Minnesota, United States, 55455
Contact: Andrea M Metzig, M.A.    612-625-3623    thel0041@umn.edu   
Contact: Anne L Norris, B.A.    612-626-3813    kelli023@umn.edu   
Principal Investigator: Aaron S Kelly, Ph.D.         
Sponsors and Collaborators
University of Minnesota - Clinical and Translational Science Institute
Rare Diseases Clinical Research Network
Investigators
Principal Investigator: Aaron S Kelly, Ph.D. University of Minnesota - Clinical and Translational Science Institute
  More Information

Additional Information:
No publications provided

Responsible Party: University of Minnesota - Clinical and Translational Science Institute
ClinicalTrials.gov Identifier: NCT01586871     History of Changes
Other Study ID Numbers: 1202M09721, U54NS065768
Study First Received: April 25, 2012
Last Updated: July 22, 2013
Health Authority: United States: Institutional Review Board

Keywords provided by University of Minnesota - Clinical and Translational Science Institute:
MPS I
MPS II
MPS VI
Mucopolysaccharidoses

Additional relevant MeSH terms:
Mucopolysaccharidoses
Mucopolysaccharidosis VI
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 July 22, 2014