The successful treatment of Pompe disease in utero for the first time may be the start of a new chapter for fetal therapy, researchers said.
Pompe diseaseThe patient, now a toddler, is thriving, according to the researchers. Her parents previously had children with the same disorder who died."This treatment expands the repertoire of fetal therapies in a new direction," Tippi MacKenzie, MD, a pediatric surgeon with UCSF Benioff Children's Hospitals and a coauthor of the report, said in a news release.
Pompe disease is caused by mutations in a gene that makes acid alpha-glucosidase. With limited amounts of this enzyme, dangerous amounts of glycogen accumulate in the body. Babies with infantile-onset disease typically have enlarged hearts and die by age 2 years. Newborn screening can lead to early initiation of treatment with recombinant enzymes,"but this strategy does not completely prevent irreversible organ damage," the authors said.The patient in the new report received six prenatal ERT treatments at The Ottawa Hospital, in Canada, and is receiving postnatal enzyme therapy at CHEO, a pediatric hospital and research center in Ottawa.through the umbilical vein. They delivered the first infusion to the fetus at 24 weeks 5 days of gestation.
The successful treatment involved collaboration among UCSF, where researchers are conducting a clinical trial of this treatment approach; CHEO and The Ottawa Hospital; and Duke University in North Carolina.
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