Cardiovascular Assessment for Mucopolysaccharidosis

HC
NM
Overseen ByNina Movsesyan, Ph.D.
Age: Any Age
Sex: Any
Trial Phase: Academic
Sponsor: Children's Hospital of Orange County
No Placebo GroupAll trial participants will receive the active study treatment (no placebo)

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial aims to better understand heart and blood vessel health in individuals with mucopolysaccharidoses (MPS), a group of rare genetic disorders affecting various body parts. Researchers will regularly check specific blood markers and use non-invasive scans to measure the flexibility and thickness of the carotid artery walls, a major neck blood vessel. These checks, part of the Cardiovascular Structure and Function Assessment, will occur annually for three years to observe any changes over time. Individuals with a confirmed MPS diagnosis who can participate in the study assessments may be eligible to join. As an unphased trial, this study offers a unique opportunity to enhance the understanding of cardiovascular health in MPS patients.

Do I need to stop my current medications to join the trial?

The trial information does not specify whether you need to stop taking your current medications. It's best to discuss this with the trial coordinators or your doctor.

Why are researchers excited about this trial?

Researchers are excited about the trial focusing on cardiovascular structure and function in people with mucopolysaccharidoses (MPS) because it aims to understand how these conditions impact the heart and blood vessels in ways not yet fully explored. Unlike existing treatments that primarily address the enzyme deficiencies in MPS, this assessment focuses on the cardiovascular system, potentially uncovering new insights into how these disorders affect heart health. This could pave the way for more targeted therapies that not only manage symptoms but also improve overall cardiovascular outcomes for patients with MPS.

Who Is on the Research Team?

RW

Raymond Wang, M.D.

Principal Investigator

CHOC Children's Hospital

Are You a Good Fit for This Trial?

Inclusion Criteria

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

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks
1 visit (in-person)

Initial Entry

Collection of demographic data, medical history, and initial measurements including carotid ultrasonography and echocardiography

1 day
1 visit (in-person)

Annual Assessment

Annual assessment of cardiac and carotid structure and function, and measurement of circulating biomarkers

3 years
1 visit per year (in-person)

Follow-up

Participants are monitored for safety and effectiveness after the main assessments

4 weeks

What Are the Treatments Tested in This Trial?

Interventions

  • Cardiovascular Structure and Function Assessment

Find a Clinic Near You

Who Is Running the Clinical Trial?

Children's Hospital of Orange County

Lead Sponsor

Trials
38
Recruited
5,700+

Ultragenyx Pharmaceutical Inc

Industry Sponsor

Trials
94
Recruited
104,000+

Dr. Emil D. Kakkis

Ultragenyx Pharmaceutical Inc

Chief Executive Officer since 2010

MD/PhD in Biological Chemistry from UCLA

Dr. Eric Crombez

Ultragenyx Pharmaceutical Inc

Chief Medical Officer since 2023

MD from Wayne State University School of Medicine