PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)

Who is this study for? Pregnant women age 18 to 50 carrying fetuses between 18 to 34 weeks gestation diagnosed with lysosomal storage disorders
What treatments are being studied? Aldurazyme (laronidase)
Status: Recruiting
Location: See location...
Intervention Type: Drug
Study Type: Interventional
Study Phase: Phase 1
SUMMARY

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.

Eligibility
Participation Requirements
Sex: Female
Minimum Age: 18
Maximum Age: 50
Healthy Volunteers: f
View:

• 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.

Locations
United States
California
University of California
RECRUITING
San Francisco
Contact Information
Primary
Tippi MacKenzie, MD
tippi.mackenzie@ucsf.edu
415-476-4086
Backup
Emma Canepa, MS, CCRP
Emma.Canepa@ucsf.edu
415-476-7255
Time Frame
Start Date: 2021-07-01
Estimated Completion Date: 2032-07-31
Participants
Target number of participants: 10
Treatments
Experimental: Experimental: in utero enzyme replacement therapy
ERT will be delivered in utero. Typically, the target of the procedure to administer in utero ERT will be the umbilical vein near the insertion of the umbilical cord into the placenta. The dose of the ERT will be dependent on the specific disease process and enzyme being replaced, and the estimated weight of the fetus. The dosage will be the same as the recommended weight-based postnatal dosing, adjusted for estimated fetal weight. IUERT will be repeated every 2-4 weeks, which is an interval consistent with the standard of care for IUTs (every 2-4 weeks) to avoid excessive access through the umbilical vein. This interval is also consistent with the half-life of each relevant enzyme.
Related Therapeutic Areas
Pompe Disease
Brachydactyly Mononen Type
Cholesteryl Ester Storage Disease
Wolman Disease
Gaucher Disease
Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome)
Sponsors
Leads: University of California, San Francisco
Collaborators: Duke University

This content was sourced from clinicaltrials.gov

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