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.
Live male or female fetuses at 18 0/7 weeks to 34 6/7 weeks gestation
Diagnosis of one of the 8 included LSDs in utero by genetic or enzymatic analyses performed on amniotic fluid, fetal blood, placental tissue, or other samples through chorionic villus sampling (CVS), amniocentesis, cordocentesis, cell free fetal DNA, or other procedures. In the event that parents are identified as genetic carriers for a LSD, diagnostic testing for the fetus would be performed to confirm the diagnosis
Pregnant women age 18 years to 50 years, carrying a live male or female fetus at 18 0/7 weeks to 34 6/7 weeks gestation
Identified through the above listed means to be carrying a fetus with an LSD.
Fetuses with a concurrent severe structural anomaly
Fetuses with an additional pathogenic genetic variant not related to the underlying LSD that contribute a significant risk of morbidity or mortality.
inability to complete the procedure secondary to maternal body habitus or placental location
significant cardiopulmonary disease
University of California, San Francisco
Lead sponsor
Duke University
Collaborator