PREGNANCY OUTCOMES IN IMIGLUCERASE-TREATED PATIENTS WITH GAUCHER DISEASE: REAL-WORLD DATA FROM INTERNATIONAL COLLABORATIVE GAUCHER GROUP (ICGG) GAUCHER REGISTRY PREGNANCY SUB-REGISTRY

Untreated pregnant women with Gaucher disease (GD) are at an increased risk of GD-related complications. In the Food & Drug Administration (FDA) prescribing information (2022), available data (GD registry, post marketing reports, published observational studies and case reports) show that the use of imiglucerase in pregnant women has not identified a drug-associated risk of major birth defects, miscarriage, or other adverse maternal/fetal outcomes. The European Medicines Agency (EMA) mentions that treatment-naive women should be advised to consider initiating therapy before conception, and treatment continuation throughout pregnancy in women receiving imiglucerase. To evaluate the safety profile and clinical outcomes of imiglucerase treatment in pregnant women with Gaucher disease, with specific focus on maternal disease management and fetal/neonatal outcomes, in order to provide evidence-based recommendations for optimal management of Gaucher disease during pregnancy. This ICGG Gaucher Registry Pregnancy Sub-Registry study (data cut-off: Oct 2023) describes maternal and fetal outcomes in patients with GD treated with imiglucerase during pregnancy. Imiglucerase exposure was reported in 110 pregnancies among 68 women (all type 1 GD); 68.2% pregnancies were exposed during all 3 trimesters. Of 104 fetuses with reported data, 92 (88.5%) were live births, 8 (7.7%) were spontaneous abortions (≤ 20 weeks gestation), 4 (3.8%) were elective/therapeutic terminations; no stillbirths (> 20 weeks gestation) were reported. Maternal pregnancy complications occurred in 33 of 108 (30.6%) pregnancies; thrombocytopenia (7 [6.5%]) was most common. Maternal labor/delivery complications occurred in 27 of 108 (25.0%) pregnancies; thrombocytopenia/platelet transfusion (6 [5.6%]) was most common. Maternal post-partum complications occurred in 24 of 108 (22.2%) pregnancies; anemia/blood transfusion (8 [7.4%]) was most common. Delivery mode was vaginal in 64 (58.2%), cesarean in 22 (20.0%) and unknown in 26 (23.6%) pregnancies. Neonatal complications occurred in 9.5% of neonates; minor congenital abnormality (2 [2.7%]) was most common. Most imiglucerase-treated women had live births and healthy neonates. Spontaneous abortion frequency is aligned with published general population rates (12%–24%).