Cardiovascular Structure and Function in the Mucopolysaccharidoses
This study's investigators previously demonstrated the potential utility of non-invasive carotid ultrasonography to calculate carotid intima media thickness (cIMT) and stiffness (as measured by the three parameters, carotid cross-sectional distensibility \[cCSD\], carotid cross-sectional compliance \[cCSC\], and carotid incremental elastic modulus \[cIEM\]) in people with mucopolysaccharidoses (MPS). Investigators also studied arterial gene expression in animal models of MPS, and identified upregulation of a number of markers potentially tied to atherosclerosis and inflammation. These include the atherosclerotic marker known as Clusterin (CLU), Cathepsin S, Elastin, and the inflammatory cytokines interleukin 1-α, interleukin 1-β, interleukin 2, and interleukin 6. Other studies have identified elevation in circulating tumor necrosis factor-α correlating with pain and physical disability in certain mucopolysaccharidoses. Since these studies are cross sectional, and not longitudinal, this study aims to annually measure these previously studied biomarkers (carotid measurements, circulating cytokines, cathepsin S, elastin, and CLU) in a large cohort of MPS patients. This study is a 3-year, prospective, anonymized, longitudinal assessment of cardiovascular structure, function, and circulating biomarkers in patients with mucopolysaccharidoses.
Conditions:
🦠 Mucopolysaccharidoses 🦠 Carotid Disease 🦠 Cardiac Disease 🦠 Inflammation
🗓️ Study Start (Actual) 13 October 2021
🗓️ Primary Completion (Estimated) 31 October 2024
✅ Study Completion (Estimated) 31 March 2025
👥 Enrollment (Estimated) 30
🔬 Study Type OBSERVATIONAL
📊 Phase N/A
Locations:
📍 Orange, California, United States

📋 Eligibility Criteria

Description

    Inclusion Criteria:

    • 1. Any patient with a molecularly confirmed diagnosis of mucopolysaccharidosis is eligible to enroll in this study
    • 2. Parental / patient informed consent

    Exclusion Criteria:

    • 1. Any reason that the investigators would deem a patient unable to participate in this study
    • 2. Inability to participate in the assessments required for this study
Ages Eligible for Study: N/A to N/A (CHILD, ADULT, OLDER_ADULT)
Sexes Eligible for Study: ALL
Accepts Healthy Volunteers: No

🗓️ Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

  • First Submitted 15 July 2021
  • First Submitted that Met QC Criteria 21 September 2021
  • First Posted 1 October 2021

Study Record Updates

  • Last Update Submitted that Met QC Criteria 28 August 2023
  • Last Update Posted 30 August 2023
  • Last Verified August 2023