When Zahid and Sobia Bashir discovered their fetus had the same genetic disease that took the lives of two of their young children, they didn't hesitate to sign up for a promising but experimental new therapy.
"I found out (the therapy) was a possibility and I was kind of in shock; I couldn't believe it," said Zahid Basir. "I only really started believing it when meetings were being set up to move it forward."
The disease, infantile-onset Pompe, is one of several rare lysosomal storage disorders that can severely damage major organs before birth. Babies born with Pompe typically have enlarged hearts and die within two years if untreated.
Pompe disease is seen in less than 1 in 100,000 live births, and is caused by mutations in a gene that makes acid alpha-glucosidase, an enzyme that breaks down glycogen. Without it or with limited amounts, glycogen accumulates dangerously in the body. After delivery, treatment to replace the enzyme is available, but the disease still often results in very low muscle tone, ventilator dependency and death.
Tippi MacKenzie, MD, a pediatric surgeon at UCSF Benioff Children's Hospitals, suspected the enzyme replacement therapy might be more effective if given in utero when it could cross the blood-brain barrier. She tried treating mice with one of these disorders - successfully - then gained fast-track approval from the Food and Drug Administration (FDA) for a clinical trial in 10 humans. Not long after, she was contacted by the doctor of an eligible first patient.
Unfortunately, it was late 2020, the height of the COVID-19 pandemic. The patient was in Canada and unable to travel back and forth to UCSF for treatments.
So MacKenzie, co-director of UCSF's Center for Maternal-Fetal Precision Medicine and director of the Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, did what UCSF faculty do best: she collaborated.
"We shared our treatment protocol with the doctors in Canada, and they got local approval to proceed with the treatment," MacKenzie said. "Together with Pompe experts at Duke University, we all met by video every week to discuss care for the mother and fetus throughout the pregnancy."
The result?
