Actively Recruiting

Phase 1
Age: 18Years - 50Years
FEMALE
ID04532047

PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders) to Assess Safety and Feasibility of In Utero Treatment for Fetuses with Lysosomal Storage Diseases

Led by University of California, San Francisco · Updated on 2026-03-17

10

Participants Needed

1

Research Sites

52 weeks

Total Duration

On this page

Sponsors

U

University of California, San Francisco

Lead Sponsor

D

Duke University

Collaborating Sponsor

AI-Summary

What this Trial Is About

Researchers are evaluating the safety and feasibility of delivering enzyme replacement therapy (ERT) during pregnancy to fetuses diagnosed with Lysosomal Storage Diseases (LSDs). These conditions carry a high risk of serious complications and death around birth, especially when associated with Non-Immune Hydrops Fetalis (NIHF). The study aims to understand if starting ERT before birth can improve outcomes by reducing immune reactions and possibly supporting better brain development during critical periods. The study involves delivering ERT directly into the umbilical vein of the fetus in the womb. The dose depends on the specific LSD and the estimated fetal weight, matching the recommended postnatal weight-based dosing. This treatment is repeated every 2 to 4 weeks, a schedule chosen to balance safety and enzyme activity. This phase 1 trial focuses on determining if fetal enzyme therapy can be safely given and maintained throughout pregnancy. Participants will be pregnant women aged 18 to 50 carrying a fetus diagnosed with one of eight specific LSDs. Researchers will monitor for any treatment-related side effects, the ability to deliver full doses, enzyme activity in urine, and improvements in hydrops if present. Antibody levels against the enzyme will also be checked. The study involves multiple visits over pregnancy and will follow outcomes for up to six years to assess long-term safety and effectiveness.

CONDITIONS

Brief Title

PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)

Who Can Participate

Age: 18Years - 50Years
FEMALE

Eligibility Criteria

Eligible

You may qualify if you...

  • Pregnant women aged 18 to 50 years carrying a live male or female fetus between 18 0/7 and 34 6/7 weeks gestation
  • Diagnosis of one of eight specified lysosomal storage diseases in the fetus confirmed by genetic or enzymatic tests
  • Ability to provide written informed consent and comply with study requirements
  • Identified as carrying a fetus with lysosomal storage disease using accepted prenatal diagnostic methods
Not Eligible

You will not qualify if you...

  • Fetuses with a severe structural anomaly
  • Fetuses with an additional significant pathogenic genetic variant unrelated to the lysosomal storage disease
  • Pregnant women with significant health conditions preventing fetal intervention, including inability to complete the procedure, serious cardiopulmonary disease, mirror syndrome, end organ failure, altered mental status, placental abruption, active preterm labor, or premature rupture of membranes
  • Women requiring therapeutic anticoagulation within 24 hours before or after the intervention

AI-Screening

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

Treatment

Duration - From treatment initiation until birth

Participants receive enzyme replacement therapy administered in utero through the fetal umbilical vein. The therapy is given every 2 to 4 weeks during pregnancy to treat fetuses with lysosomal storage diseases.

Repeated visits every 2 to 4 weeks during pregnancy

Trial Site Locations

Total: 1 location

1

University of California

San Francisco, California, United States, 94158

Actively Recruiting

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Research Team

T

Tippi MacKenzie, MD

E

Emma Canepa, MS, CCRP

How is the study designed?

Study Type

INTERVENTIONAL

Masking

NONE

Allocation

NA

Model

SINGLE_GROUP

Primary Purpose

TREATMENT

Number of Arms

1

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Published Research Related To This Trial

Tolerance induction and microglial engraftment after fetal therapy without conditioning in mice with Mucopolysaccharidosis type VII.

Quoc-Hung Nguyen, Russell G Witt, Bowen Wang...

https://pubmed.ncbi.nlm.nih.gov/32102934

Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease.

Anne Chun-Hui Tsai, Yu-Wen Hung, Cary Harding...

https://pubmed.ncbi.nlm.nih.gov/28657663

The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease.

Suhrad G Banugaria, Sean N Prater, Yiu-Ki Ng...

https://pubmed.ncbi.nlm.nih.gov/21637107