Cardiac Structure and Function in MPS

Children's Health of Orange County

Status: Enrolling

Conditions: MPS IV A; MPS IVA; MPS - Mucopolysaccharidosis; MPS I

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT07361536

13984001

1R01HL173371-01A1 (U.S. NIH Grant/Contract)

Details and patient eligibility

About

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.

Enrollment: 240 estimated patients

Sex: All

Ages: Under 99 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

240 participants in 2 patient groups

MPS

Description:

Participants diagnosed with MPS I or MPS IVA

Control

Description:

Participants who do not have an MPS diagnosis