The UCSF Center for Maternal-Fetal Precision Medicine is conducting a phase 1 clinical trial (NCT04532047) to treat lysosomal storage diseases prenatally by infusing the fetus with weight-adjusted doses of recombinant enzymes currently approved for use in pediatric patients. The goal of the PEARL Trial is to improve the health of babies with lysosomal storage diseases by treating before birth.
Conditions included in this study:
- Mucopolysaccharidosis 1, 2, 4a, 6, 7
- Infantile-onset Pompe disease
- Neuronopathic Gaucher disease (types 2 and 3)
- Wolman disease
Learn more or refer a patient:
Contact the study team at fetaltreatmentcenter@ucsf.edu or 1-800-RX-FETUS and visit the PEARL Trial and UCSF Fetal Treatment Center websites. To learn more watch this video.
Virtual Information Session on Prenatal Enzyme Replacement
Recorded April 27, 2023, VIEW NOW
Covered in this session:
- Rationale and preclinical studies for Prenatal ERT, safety, benefit/risk (Sci Transl Med 2020)
- Road to the clinic: IND approval (Orphanet J Rare Dis 2022)
- Clinical trial: objectives, inclusion/exclusion criteria, enrollment advisory board, counseling
- Support for patients: coverage of clinical care, research costs, transportation, lodging; logistical support
- Case review of Infantile-Onset Pompe Disease (NEJM 2022)
- Considerations for postnatal care, gene therapy trials