Cardiac Structure and Function in MPS
Cardiovascular Structure and Function in Mucopolysaccharidosis Types I and IVA
2 other identifiers
observational
240
1 country
3
Brief Summary
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:
- 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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Sep 2025
Longer than P75 for all trials
3 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
September 1, 2025
CompletedFirst Submitted
Initial submission to the registry
January 21, 2026
CompletedFirst Posted
Study publicly available on registry
January 23, 2026
CompletedPrimary Completion
Last participant's last visit for primary outcome
April 30, 2030
ExpectedStudy Completion
Last participant's last visit for all outcomes
April 30, 2030
January 26, 2026
January 1, 2026
4.7 years
January 21, 2026
January 23, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Cardiac and Carotid Structure and Function
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 Outcomes (1)
Measure biomarkers
Year 1, Year 2, Year 3, and Year 4
Study Arms (2)
MPS
Participants diagnosed with MPS I or MPS IVA
Control
Participants who do not have an MPS diagnosis
Eligibility Criteria
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.
You may qualify if:
- Any Participant with a molecularly confirmed diagnosis of mucopolysaccharidosis is eligible to enroll in this study
- Any healthy participant without a diagnosis of mucopolysaccharidosis whose age and biological sex can be matched with an enrolled mucopolysaccharidosis participant
- Parental / patient informed consent
You may not qualify if:
- Any reason that the investigators would deem a patient not eligible to participate in this study
- Inability to participate in the assessments required for this study
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (3)
Children'S Hospital of Orange County
Orange, California, 92868, United States
University of Minnesota
Minneapolis, Minnesota, 55455, United States
Saint Louis University
St Louis, Missouri, 63104, United States
Biospecimen
* Plasma * Urine
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- CASE CONTROL
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
January 21, 2026
First Posted
January 23, 2026
Study Start
September 1, 2025
Primary Completion (Estimated)
April 30, 2030
Study Completion (Estimated)
April 30, 2030
Last Updated
January 26, 2026
Record last verified: 2026-01