Cardiovascular Structure and Function in the Mucopolysaccharidoses

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

ACTIVE_NOT_RECRUITING

Total Enrollment

30 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-10-13

Study Completion Date

2026-06-30

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Adult and Juvenile Myositis

NCT00017914

Dermatomyositis Polymyositis Inclusion Body Myositis

RECRUITING

Transcriptomic Study of Adult Population With Marfan Syndrome

NCT05700175

Marfan Syndrome Marfan's Syndrome With Cardiovascular Manifestations

RECRUITING

Characteristics and Clinical Significance of Gut Microbiota in Patients With Monoclonal Gammopathy

NCT06690593

Monoclonal Gammopathy of Undetermined Significance (MGUS) Intestinal Flora Multiple Myeloma +1 more

RECRUITING

Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others

NCT01193075

Charcot Marie Tooth Disease

RECRUITING

Predicting the Metabolic Biomarkers Associated With Injury in Athletes

NCT06888635

Sports Medicine

NOT_YET_RECRUITING

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Specific Aims

1. Annually assess cardiac and carotid structure and function utilizing ultrasonography, in patients with mucopolysaccharidoses
2. Annually measure circulating levels of clusterin, elastin, cathepsin S, lipids, and cytokines in patients with mucopolysaccharidoses

Target enrollment 30 subjects at CHOC Children's Hospital

Study Protocol

Screening

1. Study Investigators will identify eligible patients to participate in the study from their current patient population and future referrals.
2. Eligible patients will be provided with study information on the study during their standard of care metabolic clinic visit.

Informed Consent

1. Informed consent will be obtained following the requirements set forth by 21 CFR 50.25.
2. Patients interested in the study will be provided the informed consent document. The document will be reviewed in a private quiet room and ample time for questions will be provided. The patient can keep a copy of the consent if they wish to discuss the study with friends and family. Consent will only be obtained once the patient has had time to ask questions and is aware that the study is completely voluntary.

Initial entry

1. Information regarding age, sex, MPS diagnosis (including genetic mutation and enzymatic levels, if possible) will be obtained
2. Height and weight will be obtained. If patient has had a recent (within 3 months) evaluation at CHOC Children's with height and weight, those parameters may be used
3. Medical records will be obtained specifically focusing upon

1. the genetic and/or enzymatic testing used to confirm the MPS diagnosis
2. the treatment status (treated or not) and duration of treatment (calculated by the difference between date of first carotid imaging and date of first treatment)
4. Carotid ultrasonography will be obtained

1. Study takes 10 - 15 minutes to complete
2. Subject will be asked to lay still and quietly during procedure
3. Blood pressure and heart rate will be obtained during the study
4. Results will be digitized and stored on CD
5. Echocardiography will be obtained

1. Study takes 15 - 20 minutes to complete
2. Subject will be asked to lay still and quietly during procedure
3. Results will be digitized and stored on CD
6. Venipuncture / phlebotomy

1. 10 mL of blood total will be drawn (5 mL in a blue top citrate tube, 5 mL in a purple top EDTA tube). Measurements of cytokines, clusterin, lipidomics, cathepsin S protease, and elastin (previously identified potential biomarker candidates) will be performed.
2. Blood will preferably be drawn via venipuncture, but if patient has a port-a-cath already implanted and is having blood drawn via port-a-cath for clinically required reasons, then study-related blood draw via port-a-cath can take place concurrently with clinically required blood draws.

Annual studies Procedures 2), 4), 5), and 6) will be repeated on an annual basis for a total of three years

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Mucopolysaccharidoses Carotid Disease Cardiac Disease Inflammation

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

Carotid ultrasonography

1. Study takes 10 - 15 minutes to complete
2. Subject will be asked to lay still and quietly during procedure
3. The ultrasound probe will be placed on one side of the neck to capture images of the carotid artery. When images from one side have been captured, the probe will be moved to the other side of the neck to capture images from the other carotid artery.
4. Blood pressure and heart rate will be obtained during the study
5. Results will be anonymized, digitized and stored on CD with unique identifier

Intervention Type DIAGNOSTIC_TEST

Echocardiography, transthoracic

1. Study takes 15 - 20 minutes to complete
2. Subject will be asked to lay still and quietly during procedure
3. The technician will apply an ultrasound probe to the chest. Images and movies will be acquired.
4. Results will be digitized and stored on CD

Intervention Type DIAGNOSTIC_TEST

Venipuncture

1. 10 mL of blood total will be drawn (5 mL in a blue top citrate tube, 5 mL in a purple top EDTA tube). Measurements of cytokines, clusterin, lipidomics, cathepsin S protease, and elastin (previously identified potential biomarker candidates) will be performed.
2. Blood will preferably be drawn via venipuncture, but if patient has a port-a-cath already implanted and is having blood drawn via port-a-cath for clinically required reasons, then study-related blood draw via port-a-cath can take place concurrently with clinically required blood draws.

Intervention Type PROCEDURE

Other Intervention Names

Discover alternative or legacy names that may be used to describe the listed interventions across different sources.

Carotid ultrasound Echocardiogram Blood draw Phlebotomy

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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

Eligible Sex

ALL

Accepts Healthy Volunteers

No