NCT04532047 PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)
| NCT ID | NCT04532047 |
| Status | Recruiting |
| Phase | Phase 1 |
| Sponsor | University of California, San Francisco |
| Condition | MPS I |
| Study Type | INTERVENTIONAL |
| Enrollment | 10 participants |
| Start Date | 2021-07-01 |
| Primary Completion | 2031-07-31 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
You will actively receive the study intervention — which may be a drug, biologic, device, or procedure.
Phase 1 is the earliest stage of human testing — safety and dosage are the primary focus. Visits are frequent and medical supervision is intensive. You will be among the first people to receive this treatment.
This trial targets 10 participants in total. It began in 2021-07-01 with a primary completion date of 2031-07-31.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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 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), 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.
Contact & Investigator
Tippi MacKenzie, MD
PRINCIPAL INVESTIGATOR
University of California, San Francisco
Frequently Asked Questions
Who can join the NCT04532047 clinical trial?
This trial is open to female participants only, aged 18 Years or older, up to 50 Years, studying MPS I. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
What phase is the NCT04532047 trial and what does that mean for participants?
Phase 1 trials are the first stage of human testing. The primary goal is to assess safety and determine appropriate dosage levels. Participants are closely monitored. These trials typically involve a small number of volunteers.
Is NCT04532047 currently recruiting?
Yes, NCT04532047 is actively recruiting participants. Contact the research team at tippi.mackenzie@ucsf.edu for enrollment information.
Where is the NCT04532047 trial being conducted?
This trial is being conducted at San Francisco, United States.
Who is sponsoring the NCT04532047 clinical trial?
NCT04532047 is sponsored by University of California, San Francisco. The principal investigator is Tippi MacKenzie, MD at University of California, San Francisco. The trial plans to enroll 10 participants.