Study of Heart and Blood Vessel Health in People With and Without Mucopolysaccharidosis Types I and IVA

What this Trial Is About

Researchers are studying how heart and blood vessel problems develop in people with Mucopolysaccharidosis MPS, a rare condition affecting the body. They want to understand if people with MPS experience faster changes in their blood vessels and if certain proteins in their blood are linked to these changes. The study also aims to find reliable blood and urine markers to track heart health and guide future treatments. The study includes two groups people diagnosed with MPS types I or IVA and healthy participants without MPS who have similar age and biological sex. Participants will undergo yearly tests for four years, including carotid ultrasound to image neck blood vessels, echocardiogram to image the heart, blood draws, and urine collection. These tests help track changes in heart and blood vessel structure and function over time. Participants will visit once a year for four years to complete the tests. Researchers will measure heart and carotid artery structure and function, as well as biomarkers in blood and urine at each visit. The study helps monitor heart health changes and may inform future treatment strategies. Participation is open from birth up to 99 years old, and healthy volunteers are included for comparison.

Cardiac Structure and Function in MPS