Cardiac Structure and Function in MPS

January 23, 2026 updated by: Children's Hospital of Orange County

Cardiovascular Structure and Function in Mucopolysaccharidosis Types I and IVA

The purpose of this study is to better understand how heart and blood vessel problems develop in people with Mucopolysaccharidosis (MPS). The investigators are looking at certain substances in the body called GAGs and proteoglycans to see how they affect the heart. The investigators also want to find reliable blood and urine markers that can help us track heart health and guide future treatments.

This study aims to answer two main questions:

  1. Do people with MPS show faster changes in their blood vessels over time (such as thickening or stiffening of the carotid artery) compared to people without MPS?
  2. Do people with MPS have higher levels of certain proteins in their blood (such as clusterin and inflammatory markers) that are linked to blood vessel changes?

What participants will do?

Participants will complete the following tests once a year for 4 years:

  • Carotid ultrasound: an imaging test that looks at the blood vessels in the neck.
  • Echocardiogram: an ultrasound of the heart.
  • Blood draw
  • Urine collection

These tests help the investigators track changes in heart and blood vessel health over time.

Study Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

240

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • United States
    • California
      • Orange, California, United States, 92868
        • Recruiting
        • Children's Hospital of Orange County
        • Contact:
    • Minnesota
      • Minneapolis, Minnesota, United States, 55455
        • Not yet recruiting
        • University of Minnesota
        • Contact:
    • Missouri
      • St Louis, Missouri, United States, 63104

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Participants will be drawn from each participating site's existing patient population. Eligible individuals who meet protocol-defined criteria and are willing to take part in annual study visits will be invited to enroll. The study population will therefore consist of patients receiving care at the participating institutions who consent to ongoing observational follow-up.

Description

Inclusion Criteria:

  1. Any Participant with a molecularly confirmed diagnosis of mucopolysaccharidosis is eligible to enroll in this study
  2. Any healthy participant without a diagnosis of mucopolysaccharidosis whose age and biological sex can be matched with an enrolled mucopolysaccharidosis participant
  3. Parental / patient informed consent

Exclusion Criteria:

  1. Any reason that the investigators would deem a patient not eligible to participate in this study
  2. Inability to participate in the assessments required for this study

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
MPS
Participants diagnosed with MPS I or MPS IVA
Control
Participants who do not have an MPS diagnosis

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Cardiac and Carotid Structure and Function
Time Frame: Year 1, Year 2, Year 3, and Year 4
1) We aim to annually assess cardiac and carotid structure and function utilizing ultrasonography, in participants with mucopolysaccharidoses and matched control participants
Year 1, Year 2, Year 3, and Year 4

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Measure biomarkers
Time Frame: Year 1, Year 2, Year 3, and Year 4
2) We aim to annually measure circulating levels of clusterin, elastin, cathepsin S, and cytokines in participants with mucopolysaccharidoses and matched control participants
Year 1, Year 2, Year 3, and Year 4

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Children's Hospital of Orange County

Collaborators

National Heart, Lung, and Blood Institute (NHLBI)

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

September 1, 2025

Primary Completion (Estimated)

April 30, 2030

Study Completion (Estimated)

April 30, 2030

Study Registration Dates

First Submitted

January 21, 2026

First Submitted That Met QC Criteria

January 21, 2026

First Posted (Actual)

January 23, 2026

Study Record Updates

Last Update Posted (Actual)

January 26, 2026

Last Update Submitted That Met QC Criteria

January 23, 2026

Last Verified

January 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 13984001
  • 1R01HL173371-01A1 (U.S. NIH Grant/Contract)

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on MPS IVA

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Qatar

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe