Genzyme Corp has unveiled promising data from a mid-stage trial of a pill it is developing for Gaucher disease while rivals Shire and Protalix Biotherapeutics have also been showcasing their drugs for the rare genetic disorder.

Gaucher has been in the headlines since the global supply shortage caused by Genzyme temporarily shutting down its manufacturing facility in Boston last year after a bioreactor was contaminated with a virus which affected production of Cerezyme (imiglucerase), currently the only approved drug for the disease.

Against this background, presentations at the Lysosomal Disease Network World Symposium in Miami has caught the eye and Genzyme kicked off proceedings with two-year data from a Phase II trial for its investigational oral therapy called eliglustat.

Genzyme said that continued improvements were observed across all endpoints, eg improvements in spleen and liver size, haemoglobin and platelet levels, plus bone disease. The latter, said Genzyme senior vice president Geoff McDonough, “is a primary cause of morbidity for patients with Gaucher” and these data suggest that eliglustat “may have a significant effect on bone mineral density”. The company has begun enrollment in two Phase III trials of eliglustat, one of which will compare the drug to Cerezyme, which is injectable.

Elsewhere in Miami, Shire presented positive data from the first Phase III study of its investigational Gaucher drug velaglucerase alfa, while Protalix presented additional late-stage data on its drug, taliglucerase alfa. Both drugs are being provided to patients in the USA and Europe and the companies are hoping for full approval soon.