Recruiting

Observational Study

Sponsor:

Children's Hospital of Orange County

Code:

NCT07361536

Conditions

MPS I

MPS IV A

MPS - Mucopolysaccharidosis

MPS IVA

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

Study Details

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.

Conditions

MPS I

MPS IV A

MPS - Mucopolysaccharidosis

MPS IVA

Study ID

NCT07361536

Start date

Sep 1, 2025

Status verified date

Jan, 2026

Completion date

Apr 30, 2030

Anticipated

Primary completion date

Apr 30, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

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

Study Design

Enrollment

240 participants

Anticipated

Interventions and Outcome Measures

Arms

MPS

Participants diagnosed with MPS I or MPS IVA

Control

Participants who do not have an MPS diagnosis

Primary outcome measure

  • Cardiac and Carotid Structure and Function [ Time Frame: Year 1, Year 2, Year 3, and Year 4 ]

Central Contacts and Locations

Central contacts

Nina Movsesyan

714-509-3008Metabolic.CRC@choc.org

Locations

Children'S Hospital of Orange County

Recruiting

Orange, California, United States, 92868

Contacts

Nina Movsesyan

714-509-3008Metabolic.CRC@choc.org

More Information

Sponsor

Children's Hospital of Orange County

Last update posted

Jan 26, 2026

Last verified

Jan, 2026

Keywords

  • mucopolysaccharidosis
  • carotid
  • cardiovascular
  • biomarker
  • observational

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Children's Hospital of Orange County on 2026-01-26.