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PEARL: Enzyme Replacement Therapy for Lysosomal Storage Disorders in Fetuses

This study, called PEARL, is looking at the safety and feasibility of giving enzyme replacement therapy to unborn babies (fetuses) who have certain lysosomal storage disorders (LSDs). These are rare genetic conditions where the body can't break down certain substances, leading to serious health problems. The treatment being tested is Aldurazyme (laronidase), an approved enzyme therapy. Researchers want to see if giving this treatment before birth can improve outcomes for affected babies. You might be able to join if you are a pregnant woman between 18 and 50 years old, and your unborn baby (fetus) has been diagnosed with one of the included LSDs between 18 and 34 weeks of pregnancy. The study will measure side effects and how well the treatment is given to the baby, as well as levels of certain substances (glycosaminoglycans or GAGs) in the baby's urine.

Study design
This is a Phase 1 interventional study, meaning it's an early-stage trial focused on safety. It plans to enroll 10 participants.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
Participants will be followed for 6 years after treatment.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT04532047

PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)

Recruiting
PHASE1Ages 18–50InterventionalTreatment
University of California, San Francisco
~10 participants
Updated 2026-03-17 on ClinicalTrials.gov
What's tested:Aldurazyme (laronidase)

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Number of participants with treatment-related adverse events as assessed by CTCAE v5.0.
Measured over 6 years
+3 more outcomes measured

Conditions

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

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Where it's being run

1 sites across 1 states
California1

Study leadership

  • Tippi MacKenzie, MD · PRINCIPAL_INVESTIGATOR · University of California, San Francisco

Who to contact

Tippi MacKenzie, MD
[email protected]
415-476-4086
Email the study team

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Eligibility criteria

Inclusion

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

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.
Women with one or more significant comorbidities that would preclude fetal intervention including, but not limited to:
Mother will require therapeutic dosing of anticoagulation within 24 hours prior to or following the intervention.

What this trial measures

  • Number of participants with treatment-related adverse events as assessed by CTCAE v5.0.6 years

    Adverse and serious adverse events including, but not limited to, death within 24 hours after the procedure, stillbirth, death prior to initial hospital discharge,increased response with antibody development above that expected with postnatal ERT, and serious related or serious unexpected adverse events exceeding those expected with the natural history of treated disease during the first five years of life, assessed by CTCAE v5.0.

  • Number of participants to receive the full initial, weight-based dose of enzyme replacement therapy through the fetal umbilical vein, and subsequent doses throughout the pregnancy.6 years

    full dose administration compared to the need to halt the intervention prior to administration of a full dose.

  • Number of participants with the presence and levels of glycosaminoglycans (GAGs) in urine.6 years

    Laboratory analysis of urine for GAG levels.

  • The number of participants with improvement or resolution of hydrops (if present).6 years

    Improvement of hydrops via ultrasound and echocardiogram results (if present).