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First-in-Human In Utero Enzyme Replacement Therapy

“As new treatments become available for children with genetic conditions, we are developing protocols to apply before birth.”

Tippi MacKenzie, MD
Ayla Bashir with her parents, Sobia Qureshi and Zahid Bashir. (August 24, 2022)

A new case study led by co-senior author Tippi C. MacKenzie, MD, co-director of the Center for Maternal-Fetal Precision Medicine and pediatric and fetal surgeon, UCSF Benioff Children’s Hospitals, describes the successful in utero enzyme replacement treatment of a fetus with infantile-onset Pompe—a lysosomal storage disease. The results encourage further investigation of prenatal molecular therapies.

The successful treatment is a feat of collaboration between UCSF, where an ongoing clinical trial of the treatment is based; CHEO and The Ottawa Hospital, where the patient was diagnosed and treated; and Duke University, home to the world’s top experts on Pompe disease.

Co-senior author of the case study is Priya Kishnani, MD, division chief of Medical Genetics at Duke University School of Medicine. Co-lead authors are Jennifer Cohen, MD, assistant professor in the Division of Medical Genetics in the Department of Pediatrics at Duke University School of Medicine and Pranesh Chakraborty, MD, a pediatrician and metabolic geneticist at CHEO. Additionally, co-authors include Marisa Schwab, MD, and Billie Lianoglou, MS, in the UCSF Department of Surgery and Anita Moon-Grady, MD, and Paul Harmatz, MD, in the UCSF Department of Pediatrics, also contributed to this research. Please refer to the paper for additional co-authors.

UCSF news article: Fetal Therapy Offers Hope for Patients with Rare Genetic Disorders

Article published in the New England Journal of Medicine (NEJM), 9 Nov 2022: In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe’s Disease

A companion article in the New England Journal of Medicine (NEJM), 9 Nov 2022: Prenatal Enzyme-Replacement Therapy

Related New York Times article: The Disease Took Zara, Then Sara. Could Ayla Be Saved?