Low bone density in Gaucher disease improves with Cerezyme^®

A research study published in the January issue of the Journal of Bone and Mineral Research demonstrates that bone mineral density (BMD) was significantly higher in Gaucher patients who have used Cerezyme® (imiglucerase) over a long period of time than those who were not being treated with enzyme replacement therapy.

Patients with Gaucher disease, a chronic, debilitating disorder, are at increased risk for developing bone complications, including osteopenia (bone mass reduction), osteoporosis and fractures. The analysis found that patients receiving Cerezyme®, the standard of care enzyme replacement therapy for Gaucher type 1, experienced a significant increase in bone mineral density over time when compared with patients who were not treated. Furthermore, the improvements in bone mineral density were found to be dose-dependent, with those patients receiving higher doses of Cerezyme® achieving greater increases in bone mineral density.

Gaucher is one disease among a group of diseases called lysosomal storage disorders. In this disorder, patients miss the ability to produce an enzyme called glucocerebrosidase in the right quantity or quality, causing their metabolism to malfunction. Patients with Gaucher disease typically suffer from a spectrum of symptoms which can mimic those of more common haematological or orthopaedic disorders. Among those symptoms are enlargement of the spleen and liver, anaemia, easy bleeding and bruising, and various bone changes including the loss of bone mass, which can cause chronic disability and diminish quality of life.

Cerezyme® has been demonstrated to decrease, halt or normalize many of the major signs and symptoms of Gaucher disease types 1 and 3.

To evaluate the effect of long-term Cerezyme® treatment on bone mineral density, the investigators conducted a retrospective analysis of about 500 patients participating in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

All patients receiving Cerezyme® experienced an increase in bone mass over time, whereas untreated patients experienced no improvement or a decline in bone mineral density over the same period. Patients receiving Cerezyme at the recommended average dose of 60 units per kilogram biweekly faired the best, achieving scores approaching those of people without Gaucher.

The investigators found that achieving such normal bone mass scores may require eight years or more of sustained treatment with Cerezyme. This is longer than is required to reach normal values for other disease parameters, such as haematological parameters or reductions in bone marrow infiltration, which is not surprising, considering that turn over of blood cells occurs more rapidly than bone renewal in healthy as well as diseased people.

The authors conclude that reaching a normal bone mineral density score should be a therapeutic goal for patients with Gaucher disease.

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