Clinical Research Directory

PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)

For detailed information, please view our study website: https://pearltrial.ucsf.edu/ The investigators aims to determine the the maternal and fetal safety and feasibility of in utero fetal enzyme replacement therapy in fetuses with Lysosomal Storage Diseases.

Longitudinal Study of Neurodegenerative Disorders

The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.

Cardiac Structure and Function in MPS

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: 1. 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? 2. 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.