Genzyme touts postmarket study of Cerdelga, the only first-line oral therapy for Gaucher disease

Cerdelga pill

Rare disease specialist Genzyme talked up the results of a study published in The Journal of the American Medical Association concluding that the only first-line oral therapy for Gaucher disease reduced spleen size 28% compared to placebo after 9 months.

Approved last August, Cerdelga offers patients of the inherited condition a twice-a-day pill as an alternative to three intravenously delivered infusion-based medications: Pfizer's ($PFE) Elelyso, Shire's ($SHPG) Vpriv and Sanofi's ($SNY) Cerezyme (the French Big Pharma player owns Genzyme). Actelion ($ATLN) also makes a Gaucher pill, Zavesca, but it can only be taken by patients who can't use the aforementioned infusion therapies.

Unlike the competing enzyme replacement therapies, Cerdelga inhibits the enzyme glucosylceramide synthase, reducing the production of glucosylceramide, which amasses in the cells to cause engorgement and organ growth in patients with Type 1 Gaucher disease, the most common form. The disease can lead to spleen and liver enlargement, anemia, excessive bleeding and bruising and bone disease, says Genzyme, which estimates that 10,000 people have the disease, including 6,000 in the U.S.

The secondary endpoints of the 40-patient study also came back positive, the company said in the release. They are a statistically significant increase in hemoglobin levels and platelet levels compared to placebo, as well as a decrease in liver volume, also compared to placebo.

But the paper abstract warns that "the clinical significance of these findings is uncertain, and more definitive conclusions about clinical efficacy and utility will require comparison with the standard treatment of enzyme replacement therapy as well as longer-term follow-up."

However, the FDA has already given Cerdelga its blessing, so its efficacy has already been established. Still, these results may influence risk-averse doctors who are wary of the drug's new delivery method or different approach to treating Gaucher disease.

Ultimately though, Cerdelga's main selling point will be convenience and ease of use--in other words, drug delivery. Popping a pill is easier than going in for one to two hour infusion therapy sessions every other week, or more. The price tag of $310,250 per year is a head turner, but then again rare disease medications command a premium, and Cerdelga is priced in the range of its intravenous competitors.

- read the release
- here's the paper abstract