MucopolysaccharidosesNCT01586871

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

An observational study of Mucopolysaccharidoses, run by University of Minnesota at 2 sites in United States.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record

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Trial summary

Who is it for?: Ages 3 to 18 years
Conditions the study is for: Mucopolysaccharidoses
How many people: 1,147 participants
Where: 2 sitesUnited States
Study dates: Mar 2012to Jun 2017
Phase: Observational
Are there results?: Yes, posted in the registrySummary in the doctors' view

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

Ages 3 to 18 years
All sexes
No healthy volunteers
Child, Adult

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.

Who may be able to join

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

Who cannot join

None

Trial locations and contacts

2 sites in 1 country.

United States2 sites

University of Minnesota
Minneapolis, Minnesota, 55455
Children's Hospital of Orange County
Orange, California, 92868

Other trials in United States

About this study

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.

Read the 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.

Conditions: Mucopolysaccharidoses
Keywords: MPS I, MPS II, MPS IIIA, MPS VI
Medical subject headings: Mucopolysaccharidoses, Sudden Infant Death, Mucopolysaccharidosis III, Mucopolysaccharidosis VI

What is being measured

The primary outcome is the main question the study is designed to answer.

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.
Measured: Baseline

Secondary outcomes (3)

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.
Measured: 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.
Measured: 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.
Measured: Baseline

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

Mar 2012Jun 2017

First posted27 Apr 2012 (estimated)
Study startMar 2012
Primary completionAug 2016
Study completionJun 2017

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
Other trials for MucopolysaccharidosesStudies of the same condition, open and under way.
What the trial phases meanHow a treatment moves from first tests in people to approval.

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design

Study type: Observational
Observational model: Case-control
Time perspective: Retrospective
Enrolment: 1,147 participants (actual)

IDs, dates and publications

ClinicalTrials.gov ID: NCT01586871
Sponsor's protocol ID: 1202M09721
Other IDs: U54NS065768
Status last verified: Feb 2021
First submitted: 25 Apr 2012
Last updated: 24 Feb 2021
Results posted: Yes, on ClinicalTrials.gov
Data monitoring committee: No

Want to know more?

The sponsor has not listed a contact. The official record may have more details.

Talk to your doctor first and take this page with you. Only the study team can confirm whether you can join.

Questions to ask the study team

What is the study trying to find out?
What would I need to do, and how often would I visit?
Could I receive a placebo instead of the treatment?
What are the possible risks and benefits for me?
Will it cost me anything? Are travel or time paid for?
Can I keep seeing my own doctor during the study?
What happens when the study ends?

See locations

Enrolling by invitationPhase 2
Extension Study of Infigratinib in Children With Achondroplasia (ACH)
Achondroplasia
RecruitingObservational study
Cardiac Structure and Function in MPS
MPS I, MPS IV A
Not yet recruitingPhase 3
A Study to Investigate the Safety, Pharmacokinetics (PK), and Efficacy of Garetosmab in Children and Adolescents With Fibrodysplasia Ossificans Progressiva (FOP)
Fibrodysplasia Ossificans Progressiva, FOP
Active, not recruitingPhase 3
A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II (STARLIGHT)
Mucopolysaccharidosis II
Not yet recruitingObservational study
MPS IIIA Disease Monitoring Program
MPS IIIA, Sanfilippo Syndrome

All Mucopolysaccharidoses trials

Study at a glance

From the registry record, last updated by the sponsor on 24 Feb 2021. Recruitment status is as the sponsor reported it: confirm with the study team.

Official title: Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network
ClinicalTrials.gov ID: NCT01586871
Acronym / sponsor ID: 1202M09721
Conditions: Mucopolysaccharidoses
Keywords: MPS I, MPS II, MPS IIIA, MPS VI
Study type: Observational
Recruitment status: Completed
Enrolment: 1,147 participants (actual)
Lead sponsor: University of MinnesotaUniversity, hospital or other
Collaborators: Rare Diseases Clinical Research Network, National Center for Advancing Translational Sciences (NCATS), National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Study start: Mar 2012
Primary completion: Aug 2016 (actual)
Study completion: Jun 2017 (actual)
First posted: 27 Apr 2012 (estimated)
Results: Posted 3 Feb 2021

Clinical summary

The research question as the sponsor registered it. This describes what the study plans to test, not what it found.

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.

Detailed description

Study design

Observational model: Case-control
Time perspective: Retrospective

Who may qualify

Ages: 3 to 18 years
Sex: All
Healthy volunteers: Not accepted
Age groups: Child, Adult
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.

Key inclusion criteria (2 listed)

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

Key exclusion criteria (1 listed)

None

Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.

Primary outcome

Carotid Intima-media Thickness, Measured in Millimeters
Time frame: Baseline
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.

3 secondary outcomes

Carotid Cross-sectional Distensibility
Time frame: Baseline
Carotid Cross-sectional Compliance
Time frame: Baseline
Carotid Incremental Elastic Modulus
Time frame: Baseline

Results and safety

Results posted to the registry on 3 Feb 2021, as reported by the sponsor. Figures are copied from the record, not re-analysed. Full results on ClinicalTrials.gov.

Participant flow

Group	Started	Completed
Pediatric Control Patients	560	560
Adult Controls	554	554
MPS Patients	33	33

Primary outcome: Carotid Intima-media Thickness, Measured in Millimeters

Time frame: Baseline. Median (Standard Deviation). Unit: mm

Measure	Pediatric Control n = 560	Adult Control n = 554	Mucopolysaccharidosis (MPS ) Subjects n = 33
Value	0.44 (0.04)	0.52 (0.09)	0.56 (0.05)

3 secondary outcomes are reported in the full results.

Adverse events

Time frame: This is a chart review study that collected data at only one timepoint.. Other adverse events reported at 0% frequency or more

Group	Serious adverse events	Other adverse events	Deaths
MPS Patients	0 of 33 (0%)	0 of 33 (0%)	0 of 33
Pediatric Controls	0 of 560 (0%)	0 of 560 (0%)	0 of 560
Adult Controls	0 of 554 (0%)	0 of 554 (0%)	0 of 554

Loading the posted results from ClinicalTrials.gov…

Research links

Official record on ClinicalTrials.govLast updated by the sponsor 24 Feb 2021.
Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
Rare Disease Clinical Research NetworkLink provided by the sponsor.

Related trials for Mucopolysaccharidoses

Enrolling by invitationPhase 2
Extension Study of Infigratinib in Children With Achondroplasia (ACH)
Achondroplasia
RecruitingObservational study
Cardiac Structure and Function in MPS
MPS I, MPS IV A
Not yet recruitingPhase 3
A Study to Investigate the Safety, Pharmacokinetics (PK), and Efficacy of Garetosmab in Children and Adolescents With Fibrodysplasia Ossificans Progressiva (FOP)
Fibrodysplasia Ossificans Progressiva, FOP
Active, not recruitingPhase 3
A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II (STARLIGHT)
Mucopolysaccharidosis II
Not yet recruitingObservational study
MPS IIIA Disease Monitoring Program
MPS IIIA, Sanfilippo Syndrome

Referral and contact

AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.

Aaron S Kelly, Ph.D. principal investigator

University of Minnesota

2 sites in 1 country: see every site and its status.

Questions about this trial

What is this clinical trial studying?

An observational study of Mucopolysaccharidoses, run by University of Minnesota at 2 sites in United States.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 24 Feb 2021. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

Yes. Results are posted in the registry (first posted 3 Feb 2021). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Carotid Intima-media Thickness, Measured in Millimeters (time frame: Baseline). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT01586871.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Feb 2021.