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New Research in Treating Infantile-Onset Pompe Disease

Thanks to a new prenatal therapy protocol by Dr. Tippi MacKenzie and the UCSF Center for Maternal-Fetal Precision Medicine, a toddler Ayla has hit developmental milestones despite having a genetic disease that took her siblings' lives.

A new case study released in the New England Journal of Medicine discusses successful in utero enzyme replacement treatment of a fetus with infantile-onset Pompe—a lysosomal storage disease. Infantile-onset Pompe’s disease is caused by a genetic deficiency of an enzyme critical to heart development.

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