Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network
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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:
- Is the artery health of MPS I, II and VI patients different than healthy controls?
- 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 |
- Carotid Artery Thickness [ Time Frame: Baseline ] [ Designated as safety issue: No ]Carotid Intima-Media Thickness
- 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) |
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 |
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.
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| Contact: Aaron S Kelly, Ph.D. | 612-626-3492 | kelly105@umn.edu |
| 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. | |
| 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: | May 30, 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 June 18, 2013