Cardiovascular Structure and Function in Mucopolysaccharidosis Types I and IVA

Status: Recruiting
Location: See all (3) locations...
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Maximum Age: 99
Healthy Volunteers: t
View:

• 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

Locations
United States
California
Children'S Hospital of Orange County
RECRUITING
Orange
Minnesota
University of Minnesota
NOT_YET_RECRUITING
Minneapolis
Missouri
Saint Louis University
NOT_YET_RECRUITING
St Louis
Contact Information
Primary
Nina Movsesyan
Metabolic.CRC@choc.org
714-509-3008
Time Frame
Start Date: 2025-09-01
Estimated Completion Date: 2030-04-30
Participants
Target number of participants: 240
Treatments
MPS
Participants diagnosed with MPS I or MPS IVA
Control
Participants who do not have an MPS diagnosis
Sponsors
Leads: Children's Hospital of Orange County
Collaborators: National Heart, Lung, and Blood Institute (NHLBI)

This content was sourced from clinicaltrials.gov