Education and Events

This session will explore emerging prenatal therapies for lysosomal storage disorders, including in utero enzyme replacement and gene therapy. Attendees will learn about the PEARL Trial, the first clinical study of prenatal enzyme replacement therapy, along with early safety and outcome data. The session will also examine future applications of fetal gene therapy and the evolving role of genetic counselors in early diagnosis, patient counseling, care coordination, and access to prenatal precision medicine.

Presented by:
NSGC Metabolism & Lysosomal Storage Diseases SIG
Billie Lianoglou, ScM, CGC

Learning Objectives:

1. Describe the clinical rationale and emerging evidence supporting prenatal intervention for severe monogenic disorders, with a focus on in utero enzyme replacement therapy for lysosomal storage diseases.
2. Review the design, implementation, and interim outcomes of the PEARL Trial, including patient selection, procedural considerations, and early safety and efficacy findings.
3. Recognize benefits and limits related to prenatal administration of AAV9 gene insertion for GM1 gangliosidosis including data from the pediatric experience and rationale for moving the intervention to the prenatal period.
4. Discuss the role of the UCSF Center for Genome Surgery in integrating genomic diagnosis, therapeutic development, and clinical translation to expand access to precision therapies for patients with rare genetic diseases.
5. Highlight emerging opportunities and challenges for genetic counselors as prenatal genomic therapies move from research into clinical practice.