Cardiac Structure and Function in MPS

Children's Hospital of Orange County240 enrolled

Overview

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 Type

OBSERVATIONAL

Enrollment

240

Conditions

MPS I MPS IV A MPS - Mucopolysaccharidosis MPS IVA

Eligibility

Medical Language ↔ Plain English

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

Locations (3)

Children'S Hospital of Orange County

Orange, California, United States

RECRUITING

University of Minnesota

Minneapolis, Minnesota, United States

NOT_YET_RECRUITING

Saint Louis University

St Louis, Missouri, United States

NOT_YET_RECRUITING

Outcomes

Primary Outcomes

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

Time frame: Year 1, Year 2, Year 3, and Year 4

Secondary Outcomes

Measure biomarkers

2\) We aim to annually measure circulating levels of clusterin, elastin, cathepsin S, and cytokines in participants with mucopolysaccharidoses and matched control participants