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
Single group
Aldurazyme (laronidase)
DrugEnzyme replacement therapy for lysosomal storage diseases
Number of participants with treatment-related adverse events as assessed by CTCAE v5.0.
Adverse and serious adverse events including, but not limited to, death within 24 hours after the procedure, stillbirth, death prior to initial hospital discharge,increased response with antibody development above that expected with postnatal ERT, and serious related or serious unexpected adverse events exceeding those expected with the natural history of treated disease during the first five years of life, assessed by CTCAE v5.0.
Number of participants to receive the full initial, weight-based dose of enzyme replacement therapy through the fetal umbilical vein, and subsequent doses throughout the pregnancy.
full dose administration compared to the need to halt the intervention prior to administration of a full dose.
Number of participants with the presence and levels of glycosaminoglycans (GAGs) in urine.
Laboratory analysis of urine for GAG levels.
The number of participants with improvement or resolution of hydrops (if present).
Improvement of hydrops via ultrasound and echocardiogram results (if present).
Number of participants that show measured levels of antibodies against the enzyme.
Laboratory analysis of blood to measure antibody levels.
Number of participants that show functional cardiac, growth, mobility, and neurocognitive function.
ecogardiogram, skeletal survey, neurocognitve assessments such as Bayley III to assess cardiac, growth, mobility and neurocognitive function.
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University of California, San Francisco
Lead sponsor
Duke University
Collaborator
