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.
Because fetuses with these LSDs are at increased risk of serious perinatal morbidity and mortality, particularly in the setting of Non-Immune Hydrops Fetalis (NIHF), the administration of the approved enzyme therapy in utero has the potential to significantly improve outcomes for affected fetuses. The perinatal death rate associated with NIHF ranges from 30 to 75%, so development of an in utero approach to treatment could be of significant benefit. The in utero period has been shown to be a time of relative fetal tolerance to immune stimuli, and this tolerance may lead to improved response to ERT in situations where postnatal initiation instead leads to antibody development and impaired response to treatment. It is also probable that in some cases, initiation of ERT in utero leads to improved neurodevelopmental outcomes if the replaced enzyme impacts the neurologic system during critical periods of development. This is a phase 1 clinical trial to determine the safety and feasibility of fetal enzyme replacement therapy in fetuses with LSD
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
10
Enzyme replacement therapy for lysosomal storage diseases
University of California
San Francisco, California, United States
RECRUITINGNumber 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.
Time frame: 6 years
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.
Time frame: 6 years
Number of participants with the presence and levels of glycosaminoglycans (GAGs) in urine.
Laboratory analysis of urine for GAG levels.
Time frame: 6 years
The number of participants with improvement or resolution of hydrops (if present).
Improvement of hydrops via ultrasound and echocardiogram results (if present).
Time frame: 6 years
Number of participants that show measured levels of antibodies against the enzyme.
Laboratory analysis of blood to measure antibody levels.
Time frame: 6 years
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