Pregnant Gaucher Disease Patients Can Safely Continue Enzyme Replacement Therapies

Mathew Shanley

Data presented at the WORLDSymposium meeting in San Diego last month and published in the clinical journal Molecular Genetics and Metabolism concludes that pregnant women receiving enzyme replacement therapy (ERT) for Gaucher disease can continue taking it.

The poster presentation, “Reported outcomes of 453 pregnancies in patients with Gaucher disease: an analysis from the Gaucher Outcome Survey,” reports that this patient population can continue the treatment regimen with small risk of a miscarriage or issues in delivery of the baby.

Gaucher disease is a rare genetic condition caused by deficiencies in the β-glucocerebrosidase enzyme, which is responsible for breaking down fatty substances in the body. Pregnancy can worsen Gaucher disease symptoms and increase patients’ risk of having disease-related complications. Symptom alleviation can be achieved with approved ERTs, including: imiglucerase (Cerezyme), velaglucerase alfa (VPRIV) and taliglucerase alfa (Eleyso).

Each of the ERTs are available to people with Gaucher disease types 1 or 3, the former of which is the most common variation of the condition and involves bone disease, anemia, an enlarged spleen and low platelets (thrombocytopenia). Gaucher disease type 3 is the subacute neurological form of the condition. In studies, Cerezyme during pregnancy has demonstrated the ability to reduce the risk for miscarriage.

The pain associated with the disorder has been occasionally reported to persist in patients, even after long-term enzyme replacement.

In 2011, a panel of Gaucher disease experts recommended that patients not presenting with symptoms should not begin ERT before they become pregnant, and recommended against women going on ERT at all unless there is clear disease progression.

The Goucher Outcome Survey (GOS) (NCT03291223), initiated in September 2017, was used to evaluate how pregnant Gaucher patients could obtain the best birth outcomes.

The GOS is an ongoing, observational, international, multi-center, long-term Registry of Patients with Gaucher Disease notwithstanding their treatment status or the type of treatment received. Objectives of the survey include: an evaluation of safety and long-term effectiveness of velaglucerase alfa, to characterize patients receiving velaglucerase alfa or other Gaucher Disease-specific treatments, to gain a better understanding of the natural history of GD and to serve as a database for evidence-based management of Gaucher Disease over time in real-life clinical practice.

In the survey, 453 pregnancies were found and only 26% of the women were receiving ERT. No patients were on any other types of treatments, including substrate reduction therapy. A normal birth outcome was achieved by 93% of patients who were not on treatment while pregnant, compared to 91% of patients who were treated. The researchers concluded that normal outcomes were similar across the groups.

A mere 4% of pregnant patients who were not receiving treatment had a miscarriage, compared to only 7% of patients who were being treated. The difference was not significant, said the researchers.

The observations suggest that ERTs can be used safely in pregnant women with ERT.

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