NCT04532047RecruitingPhase 1
PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)
Source: ClinicalTrials.gov · Last updated 17 Mar 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Phase (registry)
- Phase 1
- Study type
- Interventional
- Enrollment
- 10 (estimated)
- First submitted
- 19 Aug 2020
- Start date
- 1 Jul 2021
- Primary completion date
- 31 Jul 2031
- Lead sponsor
- University of California, San Francisco
- Diseases
- Pompe disease, Gaucher disease
- NCT number
- NCT04532047
What you commit to
- Study type: Interventional · Phase 1
- Planned participants: 10
- From 1 Jul 2021 to the primary completion date, 31 Jul 2031
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- Fetuses with a concurrent severe structural anomaly
- Mother will require therapeutic dosing of anticoagulation within 24 hours prior to or following the intervention.
Other illness
- Women with one or more significant comorbidities that would preclude fetal intervention including, but not limited to:
- inability to complete the procedure secondary to maternal body habitus or placental location
- significant cardiopulmonary disease
- mirror syndrome
- end organ failure
- altered mental status
- placental abruption
- active preterm labor
- preterm premature rupture of membranes.
Other
- 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.
Who the study is looking for
- 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.
Age in the registry: 18 years to 50 years · Sex: Female · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| University of California Coordinator of this site? Confirm its status | San Francisco | United States | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.