Actively Recruiting
PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)
Led by University of California, San Francisco · Updated on 2026-03-17
10
Participants Needed
1
Research Sites
578 weeks
Total Duration
On this page
Sponsors
U
University of California, San Francisco
Lead Sponsor
D
Duke University
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Pregnant women aged 18 to 50 years carrying a live fetus between 18 0/7 and 34 6/7 weeks gestation
- Fetus diagnosed prenatally with one of eight specified Lysosomal Storage Diseases by genetic or enzymatic testing
- Ability to provide written informed consent and comply with study requirements
You will not qualify if you...
- Fetuses with severe structural anomalies unrelated to the Lysosomal Storage Disease
- Fetuses with additional significant pathogenic genetic variants increasing morbidity or mortality risk
- Pregnant women with significant comorbidities preventing fetal intervention, including: inability to complete procedure due to body habitus or placental location, significant cardiopulmonary disease, mirror syndrome, end organ failure, altered mental status, placental abruption, active preterm labor, or preterm premature rupture of membranes
- Use of therapeutic anticoagulation within 24 hours before or after the intervention
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
University of California
San Francisco, California, United States, 94158
Actively Recruiting
Research Team
T
Tippi MacKenzie, MD
CONTACT
E
Emma Canepa, MS, CCRP
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
TREATMENT
Number of Arms
1
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