PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)

Recruiting now · Phase 1

Conditions studied: MPS I, MPS II, MPS IVA, MPS VI, Mps VII, Gaucher Disease, Type 2, Gaucher Disease, Type 3, Pompe Disease Infantile-Onset, Wolman Disease

In brief

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.

Key facts

Study ID: NCT04532047
Run by: University of California, San Francisco
People needed: 10
Starts: 2021-07-01
Expected to finish: 2032-07-31
Last updated by the study team: 2026-03-17

Who can join

Age: 18 and older, up to 50. Sex: female. Healthy volunteers: not accepted.

You may qualify if…

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.

You may not qualify if…

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:
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.
Mother will require therapeutic dosing of anticoagulation within 24 hours prior to or following the intervention.

Where it is running

University of California — San Francisco, California, United States (enrolling)

Full record on ClinicalTrials.gov

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