Cardiac Structure and Function in MPS

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.

Recruiting

Interested in participating?

Request Info

Key information

Conditions

MPS I Carbohydrate Metabolism, Inborn Errors Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Genetic Diseases, Inborn Lysosomal Storage Diseases MPS - Mucopolysaccharidosis MPS IV A MPS IVA Metabolic Diseases Metabolism, Inborn Errors Mucinoses Mucopolysaccharidoses Mucopolysaccharidosis IV Nutritional and Metabolic Diseases Skin and Connective Tissue Diseases

Age range

0 year–99 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Children'S Hospital of Orange County, Orange, California, United States

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

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

Treatment and study plan

Primary outcomes

Cardiac and Carotid Structure and Function

Time frame: Year 1, Year 2, Year 3, and Year 4
- We aim to annually assess cardiac and carotid structure and function utilizing ultrasonography, in participants with mucopolysaccharidoses and matched control participants

Secondary outcomes

Measure biomarkers

Time frame: Year 1, Year 2, Year 3, and Year 4
- We aim to annually measure circulating levels of clusterin, elastin, cathepsin S, and cytokines in participants with mucopolysaccharidoses and matched control participants

Study contacts

Contact information is provided by the study sponsor or research team.

Nina Movsesyan

CONTACT

[email protected]

714-509-3008

Sponsors and collaborators

Lead sponsor

Children's Hospital of Orange County

Other

Collaborators

National Heart, Lung, and Blood Institute (NHLBI)

Registry information

Official study title

Cardiovascular Structure and Function in Mucopolysaccharidosis Types I and IVA

Important dates

Study start: 2025
Primary completion: 2030
Study completion: 2030
First posted: Jan 23, 2026
Registry last updated: Jan 26, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Recruiting