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โ† Trials
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PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)

RecruitingPhase 1Ages 18 Years - 50 YearsFemaleUniversity of California, San Francisco
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In plain words

What the trial is, and whether it could suit you

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.

Sign in to get the eligibility rules as simple questions to take to your doctor.

๐Ÿ“‹ Eligibility rules (as published)
Inclusion Criteria: * 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. * Ability to give written informed consent and comply with the requirements of the study. Exclusion Criteria: * 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. Hydrops fetalis will not be an exclusion criterion because ERT has the possibility of significant benefit in this situation. * Women with one or more significant comorbidities that would preclude fetal intervention including, but not limited to: 1. inability to complete the procedure secondary to maternal body habitus or placental location 2. significant cardiopulmonary disease 3. mirror syndrome 4. end organ failure 5. altered mental status 6. placental abruption 7. active preterm labor 8. preterm premature rupture of membranes. * Mother will require therapeutic dosing of anticoagulation within 24 hours prior to or following the intervention.
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What it tests

  • Aldurazyme (laronidase)
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Where

1 site
University of California
San Francisco, United States
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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