Prenatal Enzyme Replacement for Lysosomal Diseases

The PEARL Trial treats lysosomal storage diseases before birth. We use the same medication to treat a fetus with a lysosomal storage disease that is currently FDA-approved for children with the disease.

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Earlier Intervention

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UCSF Fetal Treatment Center
San Francisco, United States

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Travel Support

Diseases Included in the PEARL Clinical Trial

We are testing the safety and feasibility of prenatal enzyme replacement therapy for these lysosomal storage diseases:

Mucopolysaccharidosis (MPS) 1, or Hurler syndrome
Mucopolysaccharidosis (MPS) 2, or Hunter syndrome
Mucopolysaccharidosis (MPS) 4a, or Morquio syndrome
Mucopolysaccharidosis (MPS) 6, or Maroteaux-Lamy syndrome
Mucopolysaccharidosis (MPS) 7, or Sly syndrome
Infantile-onset Pompe disease (IOPD)
Neuronopathic Gaucher disease (types 2 and 3)
Lysosomal Acid Lipase (LAL) deficiency, or Wolman disease

Study Timeline

Drawing describing the four steps in the clinical trial, pregnant person confirms diagnosis, fetus receiving prenatal ERT between 18-35 weeks, postnatal standard ERT to baby, baby and parent to be seen yearly for follow up

This text was written and approved by Dr. Tippi MacKenzie, a pediatric and fetal surgeon, and Dr. Paul Harmatz, a pediatrician and metabolic disease expert, at the UCSF Benioff Children's Hospitals. Our approach was approved for use in a clinical trial by the US FDA in 2020, and our study is governed by UCSF's Institutional Review Board to ensure ethical and equitable treatment of participants.