Fetal Therapy for Monogenic Disorders - PEARL Trial: In Utero Enzyme Replacement Therapy for Lysosomal Storage Diseases

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
1. 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 rese

Genetic Counselor CEUs: 

The National Society of Genetic Counselors (NSGC) has authorized the National Society of Genetic Counselors (NSGC) to offer up to .1 CEUs or 1 Category 1 contact hour for the activity, Fetal Therapy for Monogenic Disorders - PEARL Trial: In Utero Enzyme Replacement Therapy for Lysosomal Storage Diseaseses. The American Board of Genetic Counseling (ABGC) will accept CEUs earned by participating in this program for the purposes of genetic counselor recertification.

Successful Completion: 

1. View recording
2. Pass quiz
3. Complete evaluation

Content expires December 31, 2027.

Member Price: $35
Non-member Price: $50