Cardiac Structure and Function in MPS
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: MPS I, MPS IV A, MPS - Mucopolysaccharidosis, MPS IVA. Basic parameters: 0 years — 99 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Cardiovascular Structure and Function in Mucopolysaccharidosis Types I and IVA
Overview
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.
Primary outcome measures
- Cardiac and Carotid Structure and Function [Time frame: Year 1, Year 2, Year 3, and Year 4]
Secondary outcome measures (1)
- Measure biomarkers [Time frame: Year 1, Year 2, Year 3, and Year 4]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Case-control
Study locations
United States · 3 centers
- Children'S Hospital of Orange County — Orange
- University of Minnesota — Minneapolis
- Saint Louis University — St Louis
Identifiers
NCT: NCT07361536 · 13984001 · 1R01HL173371-01A1