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

This study is ongoing, but not recruiting participants.
Sponsor:
Collaborators:
Rare Diseases Clinical Research Network
National Center for Advancing Translational Science (NCATS)
National Institute of Neurological Disorders and Stroke (NINDS)
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Information provided by (Responsible Party):
University of Minnesota - Clinical and Translational Science Institute
ClinicalTrials.gov Identifier:
NCT01586871
First received: April 25, 2012
Last updated: January 17, 2017
Last verified: January 2017

April 25, 2012
January 17, 2017
March 2012
August 2016   (Final data collection date for primary outcome measure)
Carotid Artery Thickness [ Time Frame: Baseline ]
Carotid Intima-Media Thickness
Same as current
Complete list of historical versions of study NCT01586871 on ClinicalTrials.gov Archive Site
Carotid Artery Stiffness [ Time Frame: Baseline ]
Carotid compliance and distensibility
Same as current
Not Provided
Not Provided
 
Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network
Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network

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.

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.

Observational
Observational Model: Case Control
Time Perspective: Cross-Sectional
Not Provided
Not Provided
Non-Probability Sample
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.
  • MPS I
  • MPS II
  • MPS VI
  • Mucopolysaccharidoses
Not Provided
Not Provided
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Active, not recruiting
60
June 2017
August 2016   (Final data collection date for primary outcome measure)

Inclusion Criteria:

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

Exclusion Criteria:

Sexes Eligible for Study: All
3 Years to 18 Years   (Child, Adult)
No
Contact information is only displayed when the study is recruiting subjects
United States
 
 
NCT01586871
1202M09721
U54NS065768 ( US NIH Grant/Contract Award Number )
No
Not Provided
Not Provided
Not Provided
University of Minnesota - Clinical and Translational Science Institute
University of Minnesota - Clinical and Translational Science Institute
  • Rare Diseases Clinical Research Network
  • National Center for Advancing Translational Science (NCATS)
  • National Institute of Neurological Disorders and Stroke (NINDS)
  • National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Principal Investigator: Aaron S Kelly, Ph.D. University of Minnesota - Clinical and Translational Science Institute
University of Minnesota - Clinical and Translational Science Institute
January 2017

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP