Pregnant Gaucher Disease Patients Can Continue Enzyme Replacement Therapy, Study Finds

Pregnant Gaucher Disease Patients Can Continue Enzyme Replacement Therapy, Study Finds

Women receiving enzyme replacement therapy for Gaucher disease can continue taking it while pregnant with little risk of a miscarriage or a problem delivering their baby, a study suggests.

Researchers reported the finding at the WORLDSymposium on lysosomal disease in San Diego, Feb. 5-9. The poster presentation, “Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey,” was also published in the journal Molecular Genetics and Metabolism.

Pregnancy can worsen Gaucher disease symptoms and increase patients’ risk of having pregnancy-related complications.

Gaucher patients have low levels of the enzyme β-glucocerebrosidase, which doctors can treat with a synthetic version of β-glucocerebrosidase. The treatment is called enzyme replacement therapy.

Such treatments include Cerezyme (imiglucerase), VPRIV (velaglucerase alfa), and Elelyso (taliglucerase alfa). They are available to people with types 1 or 3 of the disease.

Studies have shown that using Cerezyme during pregnancy leads to fewer Gaucher patient miscarriages. The therapy also leads to Gaucher patients having fewer complications from their disease during delivery and after birth than untreated patients, research has indicated.

A panel of Gaucher disease experts recommended in 2011 that patients without symptoms should not start enzyme replacement therapy before they become pregnant. The experts also recommended against women going on the therapy unless there is a clear worsening of their  disease.

A group of researchers decided to look at how pregnant Gaucher patients could obtain the best birth outcomes. They used information from the Gaucher Outcome Survey in their study.

The found 453 pregnancies in the records. Only 26% of the women were on enzyme replacement therapy. No patients were on other types of treatments, including substrate reduction therapy.

A key finding was that 93% of the patients who were not on a treatment while pregnant had a normal birth outcome, which researchers defined as a live birth delivered at term with no abnormalities. This compared with 91% of the treated patients.

The figures were so close that researchers concluded that normal outcomes were similar across the two groups.

Only 4% of pregnant patients who were not on a treatment had a miscarriage, compared with 7% of patients who were being treated. The difference was not statistically significant, the researchers said.

Another finding was that 94% of women who received VPRIV less than a month before they conceived or during their pregnancy had normal birth outcomes, and only 6% had miscarriages.

In addition, all 20 pregnant women who received VPRIV less than a month before they conceived and continued to take it throughout their pregnancy had normal birth outcomes.

“These observations, in addition to information in the [research] literature, suggest that continuation of ERT [enzyme replacement therapy] during pregnancy may be appropriate for GD [Gaucher] patients,” the researchers concluded.

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