PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)

This study is testing whether enzyme replacement therapy (ERT) — medications that supply missing or deficient enzymes — can be delivered directly to a fetus in the womb to treat lysosomal storage disorders (LSDs). These are rare inherited diseases where the body cannot break down certain substances inside cells, leading to progressive organ damage that often begins before birth. Currently, ERT is only given after birth, by which time significant harm may have already occurred. This study aims to treat the disease before birth to prevent or reduce that damage. The study enrolls pregnant women (18–50 years old) carrying a fetus diagnosed with one of 8 included lysosomal storage disorders between 18 and 35 weeks of pregnancy. You may be eligible if: - You are a pregnant woman between 18 and 50 years old - Your fetus has been diagnosed with one of the 8 included lysosomal storage disorders - Your pregnancy is between 18 weeks and 34 weeks and 6 days gestation You may NOT be eligible if: - The fetus has an additional serious structural abnormality unrelated to the LSD - You have significant heart, lung, or other major organ disease that would make fetal intervention unsafe - You are in active preterm labor or have premature rupture of membranes - You require blood-thinning medication within 24 hours of the procedure Talk to your doctor to see if this trial is right for you.