A foetus with Pompe’s disease received ultrasound monitored alglucosidase alfa every 2 weeks from 24 to 34 weeks of pregnancy (6 injections).
This baby girl continued to be treated after birth according to the standard of care (20mg/kg every fortnight, then 40mg/kg every fortnight from 9.6 months of age, then 40mg/kg every week from 11.3 months of age) for CRIM negative children.
The administration of alglucosidase alfa in utero was well tolerated.
The child was born at term by vaginal delivery and walked at the age of 11.5 months.
Her pre- and postnatal electrocardiograms and echocardiograms were normal, unlike those of her two sisters with the same mutation who died at 29 months and 8 months.
At 13 months, the girl has normal growth and motor development without cardiac pathology.
This first is part of a five-year phase I clinical trial of in utero enzyme replacement therapy (ERT) in eight lysosomal diseases with antenatal onset (NCT04532047). The aim is to limit the immune response, get the enzyme substitute into the central nervous system before the blood-brain barrier is established, and prevent the early development of irreversible organ damage.
