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Cardiac Structure and Function in MPS

RecruitingObservational studyHealthy volunteers welcome

Cardiovascular Structure and Function in Mucopolysaccharidosis Types I and IVA

Who can join

Ages 0 to 99 · All sexes · Healthy volunteers welcome

Full eligibility 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

About the study

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.

Sponsor: Children's Hospital of Orange County · Participants: 240 · Started: Sep 1, 2025

Contact the study team

Official record on ClinicalTrials.gov — NCT07361536

Locations in the U.S.

CaliforniaChildren'S Hospital of Orange County, Orange
MinnesotaUniversity of Minnesota, Minneapolis (Not yet recruiting)
MissouriSaint Louis University, St Louis (Not yet recruiting)

Conditions

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.