A new study assessing the risks of avalglucosidase alfa on pregnancy and maternal complications as well as any adverse effects in the developing fetus, newborn, and infant is now recruiting participants with a confirmed Pompe disease diagnosis.

The observational, descriptive safety study sponsored by Sanofi will collect data for around 10 years about an estimated 100 women and their babies worldwide exposed to avalglucosidase alfa during pregnancy and/or breastfeeding.

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Participants will be divided into 2 groups: pregnant women with a confirmed diagnosis of Pompe disease and exposed to avalglucosidase alfa during pregnancy and/or while breastfeeding and babies born to a mother or father with a confirmed diagnosis of Pompe disease and exposed to avalglucosidase alfa.

The primary outcome measures of the study are the prevalence of maternal complications during pregnancy, labor, delivery, and in the postpartum period, the prevalence of live births, spontaneous abortions, elective terminations, ectopic pregnancies, fetal deaths, stillbirths, and maternal deaths, and the number of major congenital anomalies, neonatal deaths, and developmental delays through the first year of life.

The study started on October 26, 2022, and it is expected to be completed in October 2032. 

Pompe disease is a genetic disease caused by a mutation in the gene coding for the acid alpha-glucosidase (GAA) enzyme and leading to the deficiency or complete absence of the enzyme.  The role of GAA is to break down glycogen to form glucose, so in its absence, glucose accumulates inside tissues causing damage.

Avalglucosidase alfa marketed under the brand name Nexviazyme by Sanofi, specifically targets the mannose-6-phosphate receptor, which plays a crucial role in the transport of the GAA enzyme into the lysosome where it exerts its activity. The treatment has been approved by the US Food and Drug Administration for the treatment of patients with late-onset Pompe disease, who are 1 year of age or older. 


Avalglucosidase alfa pregnancy study. US National Library of Medicine. Updated February 20, 2023. Accessed February 22, 2023.