Cardiac Structure and Function in MPS

Cardiovascular Structure and Function in Mucopolysaccharidosis Types I and IVA

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT07361536

Enrollment

240

Registered

2026-01-23

Start date

2025-09-01

Completion date

2030-04-30

Last updated

2026-01-26

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

MPS I, MPS IVA, MPS IV A, MPS - Mucopolysaccharidosis

Keywords

mucopolysaccharidosis, carotid, cardiovascular, biomarker, observational

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: 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.

Interventions

None listed

Study design

Observational model

CASE_CONTROL

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

0 Years to 99 Years

Healthy volunteers

Yes

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

Design outcomes

Primary

Measure	Time frame	Description
Cardiac and Carotid Structure and Function	Year 1, Year 2, Year 3, and Year 4	1\) We aim to annually assess cardiac and carotid structure and function utilizing ultrasonography, in participants with mucopolysaccharidoses and matched control participants

Secondary

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

Countries

United States

Contacts

CONTACTNina Movsesyan

Metabolic.CRC@choc.org714-509-3008

Outcome results