Prenatal Enzyme-Replacement Therapy

( N Engl J Med . 2022;387(23):2189–2193. doi: 10.1056/NEJMe2211515) Genetic diseases are difficult to treat, and though treatments have been developed none are curative. One still developing treatment is enzyme replacement therapy, and it is currently the standard of care for several lysosomal disorders. A recent study reported the first use of in utero enzyme replacement therapy for Pompe disease, which significantly mitigated symptoms and prolonged the life of the fetus that underwent treatment. This article is an editorial that describes the origin, development, mechanisms, and implications of enzyme replacement therapy and discusses the implications of this recently published study.