Cerezyme use in pregnancy tied to favorable outcomes in Gaucher study
Analysis of 110 pregnancies found high live-birth rates and healthy infants
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Treatment with Sanofi’s enzyme replacement therapy (ERT) Cerezyme (imiglucerase) during pregnancy was associated with favorable outcomes for women with type 1 Gaucher disease and their babies, according to data from an international patient registry.
Among more than 100 pregnancies, most resulted in live births, and most infants with available gestational-age data were born at term. Miscarriage rates were comparable to those seen in the general population. Most infants were healthy, and maternal complications were largely consistent with the underlying disease rather than the treatment itself.
“Most pregnancies to women with [Gaucher disease] treated with [Cerezyme] resulted in live births and healthy infants,” researchers wrote, adding that the findings reinforce current U.S. and European guidance on the use of Cerezyme during pregnancy in women with Gaucher disease.
The study, “Maternal and Fetal Outcomes in Imiglucerase-Treated Patients With Gaucher Disease: Real-World Evidence From the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub-Registry,” was published in the Journal of Inherited Metabolic Disease. The study was supported by Sanofi, which also supports the registry.
Understanding Gaucher disease and pregnancy risks
Gaucher disease is caused by mutations that affect the production or function of an enzyme needed to break down certain fatty molecules. As a result, these substances build up inside cells, damaging organs and tissues and leading to the symptoms of Gaucher disease.
In Gaucher disease type 1 — the most common type of Gaucher disease — symptoms often include anemia (low red blood cells), thrombocytopenia (low platelet counts that affect blood clotting), an enlarged spleen and liver, and bone problems.
Pregnancy in women with Gaucher disease can worsen disease symptoms and has been associated with an increased risk of severe anemia and thrombocytopenia, as well as bleeding during pregnancy or after delivery. Poor fetal growth has also been reported.
Because of these risks, doctors may recommend starting treatment before conception in women who are not yet receiving therapy, or continuing treatment during pregnancy in those already using Cerezyme.
ERTs such as Cerezyme are a mainstay of treatment for Gaucher disease. These therapies provide the body with a lab-made version of the missing enzyme through regular intravenous, or into-the-vein, infusions.
U.S. prescribing information states that available data have not identified a drug-associated risk of adverse maternal or fetal outcomes with Cerezyme use during pregnancy. European guidance recommends an individualized risk-benefit assessment for treatment during pregnancy. However, long-term real-world data on pregnancy outcomes have been limited.
Registry study examines pregnancy outcomes with Cerezyme
To provide a clearer picture, an international team of researchers analyzed outcomes from 110 pregnancies in 68 women with type 1 Gaucher disease included in the International Collaborative Gaucher Group (ICGG) Gaucher Registry and Pregnancy Sub-Registry (NCT00358943). This global observational registry collects long-term, real-world clinical information on people with Gaucher disease, including detailed pregnancy outcomes.
All women included in the analysis received Cerezyme during pregnancy and had data available for at least one outcome, including maternal complications, neonatal complications, or birth outcomes.
Most women were from Europe, the Middle East, Eurasia, and Africa (66.2%), while nearly one-third (30.9%) were from North America. The median age at Gaucher disease diagnosis was 9.5 years, and women began ERT at a median age of 18.3 years. Cerezyme was the first ERT used in all patients. The median age at the start of pregnancy was 31.7 years.
For most pregnancies (85.5%), treatment had already started before conception. In 68.2% of pregnancies, women received Cerezyme throughout all three trimesters of pregnancy.
Of 104 pregnancies with available fetal outcome data, 92 (88.5%) resulted in live births. Eight pregnancies (7.7%) ended in miscarriage before 20 weeks of gestation, and four (3.8%) were elective or medically indicated terminations. No stillbirths were reported.
The 7.7% miscarriage rate observed in the registry was similar to those reported in the general population (12%-18%), the researchers noted.
Most babies (94.1%) were born at full term, with a median gestational age of 39 weeks. Five babies (5.9%) were born prematurely, and two (3.5%) had low birth weight. Both low-birth-weight infants — and two of the five preterm births — occurred in twin pregnancies.
Neonatal complication data were available for 74 babies, and most (90.5%) had no reported complications. Seven (9.5%) had one or more reported complications, including minor birth defects and birth-related conditions that are also commonly seen in the general population.
Maternal complications largely tied to Gaucher disease
Among 108 pregnancies with available data on maternal complications, pregnancy-related complications occurred in 30.6% of cases. Complications during labor and delivery were reported in 26 pregnancies (24.1%), and postpartum complications — those occurring after birth — were reported in 24 pregnancies (22.2%).
The most commonly reported issues were thrombocytopenia, anemia, and vaginal bleeding. The researchers noted that these complications may reflect inadequate control of Gaucher disease rather than a direct effect of the therapy.
“In the ICGG Gaucher Registry Pregnancy Sub-Registry, most pregnancies to [Cerezyme]-treated women resulted in live births and healthy neonates,” the researchers concluded. “Anemia, thrombocytopenia, and vaginal bleeding were among the most commonly reported maternal complications, but may be related to [Gaucher disease] rather than to therapy, particularly in the setting of insufficient treatment.”
