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| ID | Type | Description | Link |
|---|---|---|---|
| U54NS065768 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| Rare Diseases Clinical Research Network | NETWORK |
| National Center for Advancing Translational Sciences (NCATS) | NIH |
| National Institute of Neurological Disorders and Stroke (NINDS) | NIH |
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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:
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.
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| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| Carotid Cross-sectional Distensibility | Carotid distensibility is a measure of carotid artery elasticity that has been introduced as a risk factor for cardiovascular disease. It is defined by the percent change in carotid lumen area from diastole to systole, has the unit of % and is defined by the equation (sD^2 - dD^2/dD^2)*100 where sD is the maximum systolic carotid diameter, dD is the minimum diastolic carotid diameter. Increasing carotid distensibility reflects high carotid distensibility and low stiffness, and vice versa. |
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Inclusion Criteria:
Exclusion Criteria:
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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.
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| Name | Affiliation | Role |
|---|---|---|
| Aaron S Kelly, Ph.D. | University of Minnesota | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Children's Hospital of Orange County | Orange | California | 92868 | United States | ||
| University of Minnesota |
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| Label | URL |
|---|---|
| Rare Disease Clinical Research Network | View source |
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This was a dual-center, cross-sectional assessment of carotid imaging data obtained from 33 patients with biochemically and/or molecularly confirmed MPS Types I, II, III and VI; 560 healthy pediatric control patients; and 554 adult control patients. The pediatric and adult controls were obtained from prior studies of insulin resistance and cardiovascular risk at the University of Minnesota. Clinical data from MPS patients were obtained from chart review.
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| ID | Title | Description |
|---|---|---|
| FG000 | Pediatric Control Patients | The pediatric control patients were obtained from prior studies of insulin resistance and cardiovascular risk at the University of Minnesota. |
| FG001 | Adult Controls | The adult controls were obtained from prior studies of insulin resistance and cardiovascular risk at the University of Minnesota. |
| FG002 | MPS Patients | Clinical data (demographic information, anthropometrics, ethnicity, confirmation of diagnosis, and treatment status) from MPS patients were obtained from chart review. For this project, data from MPS I, MPS II, MPS IIIa and MPS VI was available. |
| Title | Milestones | Reasons Not Completed | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
|
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| ID | Title | Description |
|---|---|---|
| BG000 | Pediatric Control | Healthy pediatric control subjects |
| BG001 | Adult Control | Healthy adult control subjects |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Continuous | Median |
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | 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. | Posted | Median | Standard Deviation | mm | Baseline |
|
This is a chart review study that collected data at only one timepoint.
There were no adverse events to be reported as this is a chart review study.
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | MPS Patients | Individuals with MPS disease (17 MPS I, 9 MPS II, 4 MPS IIIA , 3 MPS VI) |
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| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Aaron Kelly PhD | University of Minnesota | 612-626-3492 | kelly105@umn.edu |
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| ID | Term |
|---|---|
| D009083 | Mucopolysaccharidoses |
| D013398 | Sudden Infant Death |
| D009084 | Mucopolysaccharidosis III |
| D009087 | Mucopolysaccharidosis VI |
| ID | Term |
|---|---|
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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| National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) | NIH |
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| Baseline |
| Carotid Cross-sectional Compliance | This is defined by the relative change in carotid lumen area from diastole to systole for a given change in blood pressure, has the unit mm^2/mmHg and is defined by the equation ¶(sD^2-dD^2)/4*PP where PP is pulse pressure (or systolic blood pressure-diastolic blood pressure). Increasing carotid cross sectional compliance reflects high carotid distensibility and low stiffness, and vice versa. | Baseline |
| Carotid Incremental Elastic Modulus | A way of measuring the elasticity constant of the carotid vessel, has the unit mmHg and is defined by the equation 3(1+sD^2/dD^2)/cross sectional compliance value. In contrast to carotid cross sectional compliance and carotid cross sectional distensibility, increasing carotid incremental elastic modus reflects low carotid distensibility and high thickness. | Baseline |
| Minneapolis |
| Minnesota |
| 55455 |
| United States |
| BG002 |
| Mucopolysaccharidosis (MPS ) Subjects |
Mucopolysaccharidosis subjects type I, II, IIIA and VI. |
| BG003 | Total | Total of all reporting groups |
| years |
|
| Sex: Female, Male | Count of Participants | Participants |
|
| Height | measured in centimeters | Median | Standard Deviation | centimeters |
|
| Weight | measured in kilograms | Median | Standard Deviation | kilograms |
|
| Body Mass Index | Median | Standard Deviation | Kg/m^2 |
|
| Systolic blood pressure | Median | Standard Deviation | mm Hg |
|
| Diastolic blood pressure | Median | Standard Deviation | mm Hg |
|
| OG002 |
| Mucopolysaccharidosis (MPS ) Subjects |
Mucopolysaccharidosis subjects type I, II, IIIA and VI. |
|
|
| Secondary | Carotid Cross-sectional Distensibility | Carotid distensibility is a measure of carotid artery elasticity that has been introduced as a risk factor for cardiovascular disease. It is defined by the percent change in carotid lumen area from diastole to systole, has the unit of % and is defined by the equation (sD^2 - dD^2/dD^2)*100 where sD is the maximum systolic carotid diameter, dD is the minimum diastolic carotid diameter. Increasing carotid distensibility reflects high carotid distensibility and low stiffness, and vice versa. | Posted | Mean | Standard Deviation | percentage of change | Baseline |
|
|
|
| Secondary | Carotid Cross-sectional Compliance | This is defined by the relative change in carotid lumen area from diastole to systole for a given change in blood pressure, has the unit mm^2/mmHg and is defined by the equation ¶(sD^2-dD^2)/4*PP where PP is pulse pressure (or systolic blood pressure-diastolic blood pressure). Increasing carotid cross sectional compliance reflects high carotid distensibility and low stiffness, and vice versa. | Posted | Mean | Standard Deviation | mm^2*mm Hg-1 | Baseline |
|
|
|
| Secondary | Carotid Incremental Elastic Modulus | A way of measuring the elasticity constant of the carotid vessel, has the unit mmHg and is defined by the equation 3(1+sD^2/dD^2)/cross sectional compliance value. In contrast to carotid cross sectional compliance and carotid cross sectional distensibility, increasing carotid incremental elastic modus reflects low carotid distensibility and high thickness. | Posted | Median | Standard Deviation | mm Hg | Baseline |
|
|
|
| 0 |
| 33 |
| 0 |
| 33 |
| 0 |
| 33 |
| EG001 | Pediatric Controls | Healthy pediatric control subjects | 0 | 560 | 0 | 560 | 0 | 560 |
| EG002 | Adult Controls | Healthy adult control subjects | 0 | 554 | 0 | 554 | 0 | 554 |
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| D016464 | Lysosomal Storage Diseases |
| D017520 | Mucinoses |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D003645 | Death, Sudden |
| D003643 | Death |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D066088 | Infant Death |