Imiglucerase is Still the Enzyme of Choice for Type 1 Gaucher Disease

Imiglucerase is Still the Enzyme of Choice for Type 1 Gaucher Disease

Imiglucerase (Cerezyme) has an excellent track record in treating type 1 Gaucher disease, according to a recent review that analyzed 26 years worth of publications on the topic.

The study, “Imiglucerase in the management of Gaucher disease type 1: an evidence-based review of its place in therapy,” was published in the journal Core Evidence. It highlights that the treatment is effective and safe, and suggests that it adds to patients’ quality of life.

Gaucher disease was the first of lysosomal storage diseases in which patients received enzyme replacement therapy. After the first glucocerebrosidase was isolated from placental extract, an enzyme called imiglucerase — derived from hamster ovary cells — has dominated the market. It is developed and marketed by Sanofi Genzyme Corporation, Cambridge, Mass.

Researchers from Geneva University Hospital in Switzerland examined evidence gathered in clinical trials and Gaucher disease registries to assess the quality of the treatment.

The review found several trials that had compared imiglucerase to other glucocerebrosidase formulations. The authors noted that, in previously untreated patients, the treatment increased levels of hemoglobin and platelet counts. But in patients with an intact spleen, platelet counts did not improve equally well.

In studies of maintenance treatment, researchers found no  difference in the effect on blood parameters when imiglucerase was administered every two or every four weeks, if the total dose was the same.

Imiglucerase also decreased liver and spleen volumes in patients who were treated for the first time. The treatment was particularly effective in patients with the largest spleen and liver volumes at treatment start. Some patients also seemed to benefit from low or less-frequent doses of the enzyme.

Gaucher disease also impacts bone health, and while studies showed that imiglucerase does improve bone symptoms, the impact of disease does not disappear entirely. The largest effect on bone health was seen in improvements in bone marrow density, bone pain and bone marrow infiltration.

When physicians and researchers monitor the health state of a Gaucher patient, they often use biomarkers that can provide easily accessible information. A review of studies showed that imiglucerase significantly reduces all known biomarkers. The effect was particularly good for glucosylsphingosine, which is a more recent addition to the available Gaucher biomarkers.

In 2004, therapeutic goals were set for the treatment of Gaucher. For type 1 Gaucher, researchers believe the goals to be important, but many believed it was not possible to reach normal levels of many disease parameters.

Studies showed that most of the treatment goals were met with imiglucerase, and low-dose treatment also achieved goals in blood and visceral parameters.

Studies also suggested that imiglucerase improves height, and significantly improves the quality of life, particularly in patients with bone disease.

Importantly, the safety of the treatment is excellent, and no serious side effects have been reported in clinical trials or registries. There are no studies of pregnancy outcomes after imiglucerase, either in animals or humans. Limited data from 150 women suggest that the treatment is safe, but the evidence is not strong.

Researchers noted that newer enzyme types have not outperformed imiglucerase.

Two of the authors disclosed financial ties to Sanofi-Genzyme and Shire.