Safety and Feasibility of In Utero Enzyme Replacement Therapy for Fetuses with Lysosomal Storage Disorders Phase 1 Study in Pregnant Women Aged 18 to 50

What this Trial Is About

Researchers are evaluating the safety and feasibility of delivering enzyme replacement therapy ERT during pregnancy to fetuses diagnosed with Lysosomal Storage Diseases LSDs. These conditions carry a high risk of serious complications and death around birth, especially when associated with Non-Immune Hydrops Fetalis NIHF. The study aims to understand if starting ERT before birth can improve outcomes by reducing immune reactions and possibly supporting better brain development during critical periods. The study involves delivering ERT directly into the umbilical vein of the fetus in the womb. The dose depends on the specific LSD and the estimated fetal weight, matching the recommended postnatal weight-based dosing. This treatment is repeated every 2 to 4 weeks, a schedule chosen to balance safety and enzyme activity. This phase 1 trial focuses on determining if fetal enzyme therapy can be safely given and maintained throughout pregnancy. Participants will be pregnant women aged 18 to 50 carrying a fetus diagnosed with one of eight specific LSDs. Researchers will monitor for any treatment-related side effects, the ability to deliver full doses, enzyme activity in urine, and improvements in hydrops if present. Antibody levels against the enzyme will also be checked. The study involves multiple visits over pregnancy and will follow outcomes for up to six years to assess long-term safety and effectiveness.

PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)