PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)

Recruiting Phase 1 Interventional Study
MPS I MPS II MPS IVA MPS VI Mps VII Gaucher Disease, Type 2 Gaucher Disease, Type 3 Pompe Disease Infantile-Onset Wolman Disease
No Placebo Group Every participant receives an active treatment — no one gets a placebo.
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At a Glance
Age
18 – 50
Sex
Female
Trial phase
Phase 1
Study type
Interventional
Purpose
Treatment
Participants needed
10 (estimated)
Sponsor
University of California, San Francisco · Other
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About This Trial

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.

Trial Locations
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Eligibility Criteria
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), amnio…
Contacts

Tippi MacKenzie, MD

415-476-4086

tippi.mackenzie@ucsf.edu

CONTACT

Emma Canepa, MS, CCRP

415-476-7255

Emma.Canepa@ucsf.edu

CONTACT