Cardiac Structure and Function in MPS | NCT07361536

Studies
Cardiac Structure and Function in MPS

NCT07361536

Sponsor

Children's Hospital of Orange County

Status

Recruiting

Last Update Posted

Jan 26, 2026Actual

Enrollment

240Estimated

Phase

Not provided

Conditions

MPS I
MPS IV A
MPS - Mucopolysaccharidosis
MPS IVA

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
1R01HL173371-01A1	U.S. NIH Grant/Contract		View source

Status Module

Record Verification Date

Jan 2026

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Sep 1, 2025Actual

Primary Completion Date

Apr 30, 2030Estimated

Completion Date

Apr 30, 2030Estimated

First Submitted Date

Jan 21, 2026

First Submission Date that Met QC Criteria

Jan 21, 2026

First Posted Date

Jan 23, 2026Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jan 23, 2026

Last Update Posted Date

Jan 26, 2026Actual

Name	Class
National Heart, Lung, and Blood Institute (NHLBI)	NIH

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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:

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?
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.

Detailed Description

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

240Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
MPS		Participants diagnosed with MPS I or MPS IVA
Control		Participants who do not have an MPS diagnosis

Interventions

Not provided

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Cardiac and Carotid Structure and Function	1) We aim to annually assess cardiac and carotid structure and function utilizing ultrasonography, in participants with mucopolysaccharidoses and matched control participants	Year 1, Year 2, Year 3, and Year 4

Secondary Outcomes

Measure	Description	Time Frame
Measure biomarkers	2) We aim to annually measure circulating levels of clusterin, elastin, cathepsin S, and cytokines in participants with mucopolysaccharidoses and matched control participants	Year 1, Year 2, Year 3, and Year 4

Other Outcomes

Not provided

Eligibility Module

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

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

0 Years

Maximum Age

99 Years

Standard Ages

ChildAdultOlder Adult

Study Population

Participants will be drawn from each participating site's existing patient population. Eligible individuals who meet protocol-defined criteria and are willing to take part in annual study visits will be invited to enroll. The study population will therefore consist of patients receiving care at the participating institutions who consent to ongoing observational follow-up.

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Nina Movsesyan	Contact	714-509-3008		Metabolic.CRC@choc.org

Overall Officials

Not provided

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Children'S Hospital of Orange County	Recruiting	Orange	California	92868	United States

Condition Browse Module

MeSH Terms

ID	Term
D009085	Mucopolysaccharidosis IV
D009083	Mucopolysaccharidoses

Ancestor Terms

ID	Term
D002239	Carbohydrate Metabolism, Inborn Errors
D008661	Metabolism, Inborn Errors
D030342	Genetic Diseases, Inborn
D009358	Congenital, Hereditary, and Neonatal Diseases and Abnormalities

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