Heart and blood vessel changes in mucopolysaccharidosis (MPS)
Official title: Cardiovascular Structure and Function in Mucopolysaccharidosis Types I and IVA
Run by Children's Hospital of Orange County · NCT07361536 · Data updated 2026-11-12
This project will see if people with mucopolysaccharidosis (MPS) have faster artery thickening or stiffening and different blood or urine markers linked to heart and vessel problems than people without MPS.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 0 Years to 99 Years |
| Sex | All |
| Enrollment | 240 (estimated) |
| Sponsor | Children's Hospital of Orange County Academic / other |
| Locations | 3 sites (Orange, California and 2 other locations) |
| Status | Recruiting |
| Started | September 1, 2025 |
| Main results expected | April 30, 2030 |
| Study ends | April 30, 2030 |
| Registry record updated | October 21, 2026 |
| Trial ID | NCT07361536 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
People of any age with a molecularly confirmed diagnosis of MPS who can consent (or have parental consent) and complete yearly imaging and blood/urine tests for four years, plus matched healthy volunteers, are ideal candidates.
✕Probably not a fit
Individuals who cannot undergo ultrasound imaging, cannot provide blood or urine samples, or are unable to attend annual in-person visits are unlikely to benefit from participation.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study follows people with genetically confirmed mucopolysaccharidosis (MPS) and matched healthy volunteers once a year for four years to track cardiac and vascular changes. Participants undergo carotid ultrasound and echocardiogram annually and provide blood and urine samples for measurement of glycosaminoglycans (GAGs), proteoglycans, clusterin, and inflammatory markers. Imaging and biomarker data will be compared between MPS participants and matched controls to identify patterns linked to arterial thickening, stiffening, or cardiac dysfunction. The intent is to find reliable blood or urine markers and imaging endpoints that can improve monitoring and guide future treatments for heart and vessel disease in MPS.
Why it matters
Potential benefit: If successful, this could identify blood or urine markers and imaging signs that allow earlier detection and better tracking of heart and vascular disease in people with MPS.
How similar studies have gone: Previous studies have linked GAG accumulation to cardiac and vascular disease in MPS, but longitudinal studies combining imaging with blood and urine biomarkers are limited, so this combined biomarker-imaging approach is partly novel.
Who can join: the full rules
Show full inclusion / exclusion criteria
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
Where it's running
-
Children'S Hospital of Orange County
Orange, California, United States Recruiting -
Saint Louis University
St Louis, Missouri, United States Recruiting -
University of Minnesota
Minneapolis, Minnesota, United States Not yet recruiting
Study contacts
- Study coordinator: Nina Movsesyan
- Email: Metabolic.CRC@choc.org
- Phone: 714-509-3008
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.